$Unique_ID{BRK03502} $Pretitle{} $Title{Ataxia Telangiectasia} $Subject{Ataxia Telangiectasia AT Louis-Bar Syndrome Cerebello-oculocutaneous Telangiectasia Immunodeficiency with Ataxia Telangiectasia Friedreich's Ataxia Marie's Ataxia Charcot-Marie-Tooth Disease Olivopontocerebellar Atrophy Diabetes Mellitus} $Volume{} $Log{} Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 406: Ataxia Telangiectasia ** IMPORTANT ** It is possible the main title of the article (Ataxia Telangiectasia) 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 AT Louis-Bar Syndrome Cerebello-oculocutaneous Telangiectasia Immunodeficiency with Ataxia Telangiectasia Information on the following diseases can be found in the Related Disorders section of this report: Friedreich's Ataxia Marie's Ataxia Charcot-Marie-Tooth Disease Olivopontocerebellar Atrophy 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. Ataxia Telangiectasia, also known as Louis Bar Syndrome, is an inherited progressive form of cerebellar ataxia that usually begins during infancy. It involves progressive loss of coordination in limbs, head and eyes, and lower than normal immune response against infections. During the course of the disorder, 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 may develop tumors (neoplasia). Ataxia Telangiectasia may be misdiagnosed as Friedreich's Ataxia until telangiectasias appear. (For more information, choose "Friedreich" as your search term in the Rare Disease Database). Symptoms An early symptom of Ataxia Telangiectasia is diminished muscle coordination usually noticed when a child begins to walk. Coordination (especially in the head and neck area) becomes impaired, and tremors (involuntary muscle contractions) can occur. Mental deficiency is not present initially, but may appear as the disorder progresses. The telangiectasias (visible dilated blood vessels) usually begin in the eyes (the eyes look "bloodshot") between three and six years of age, although they can occur earlier. These discolorations may spread to the eyelids, face, ears, roof of the mouth and possibly other areas of the body. Rapid eye blinking and movements, and turning of the head may develop gradually. Occasional nosebleeds may also occur. The adenoids, tonsils and peripheral lymph nodes may develop abnormally or fail to develop. Muscle coordination in the head and neck area may be gradually impaired causing problems with swallowing, breathing, drooling, choking and poor cough reflexes. Slurred speech and variable jerking, writhing and tic-like movements also be noticed. Growth retardation can be linked to a growth hormone deficiency. Premature aging occurs in approximately ninety percent of patients and is characterized by gray hair with dry, thin, wrinkled or discolored skin during adolescence. A variety of other skin or hair problems may develop in some cases. Abnormalities of hormone producing (endocrine) glands may be accompanied by incomplete sexual development in both males and females. Due to an impaired immune response, patients may be more susceptible to chronic sinus and/or lung infections, recurring cases of pneumonia and chronic bronchitis. Close relatives of persons with Ataxia Telangiectasia may be at a higher risk of developing certain types of cancer than the general population. Persons with this disorder may be affected by a high incidence of carcinoma and lymphoma usually beginning during early adulthood. Exposure to X-rays seems to increase the incidence of possible tumors. Additionally, individuals with one Ataxia Telangiectasia gene (carriers) also appear to have an elevated risk for cancer. A form of Diabetes Mellitus may occur in some cases. (For more information on Diabetes Mellitus, choose "Diabetes" as your search term in the Rare Disease Database). Causes Ataxia Telangiectasia is believed to be inherited as an autosomal recessive trait. Symptoms may develop due to widespread changes in the central nervous system. A thymus gland deficiency is the main immunological abnormality linked to some cases of this disorder. Some medical researchers believe an early stage defect in fetal development may cause this form of Ataxia. 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. Some scientists suspect that a genetic defect in people with Ataxia Telangiectasia interferes with T-cell and B-cell gene arrangements which causes an inability to repair damaged cells in individuals with this disorder. Affected Population Ataxia Telangiectasia usually begins during infancy and often affects more than one child in a family. Males and females may be affected in equal numbers. In the United States, the prevalence is approximately one in 40,000 births. Related Disorders 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 ataxia choose "Ataxia" as your search term on the Rare Disease Database. Symptoms of the following disorders can be similar to Ataxia Telangiectasia. 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. 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 care. 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 and usually begins during childhood or adolescence. (For more information on this disorder, choose "Friedreich" 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 often begins during the third or fourth decade. An early symptom is unsteadiness walking down stairs or on uneven ground. Frequent falls may occur as the disorder progresses as well as tremors, loss of coordination in the arms and speech disturbances. In later stages slight loss of vision, and loss of pain or touch sensations, may also occur. 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 nerves (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). Olivopontocerebellar Atrophy (OPCA) is a group of inherited forms of Ataxia characterized by degeneration of the olivopontocerebellar area of the brain. These include Menzel type 1, Fickler-Winkler type 2, retinal degeneration type 3, Schut-Haymaker type 4, and Ophthalmoplegia (paralysis of facial and eye muscles) type 5 OPCA. As in other forms of Ataxia, progressive muscular and skeletal symptoms can occur in different combinations and degrees of severity. Complications such as vision and hearing difficulties with mental deterioration may also occur. The following disorder can be secondarily associated with Ataxia Telangiectasia but is not necessary for a differential diagnosis: A form of Diabetes Mellitus can occur in some cases of Ataxia Telangiectasia. It is characterized by unusually high levels of sugar in the blood (hyperglycemia). Insulin-dependent Diabetes is a disorder in which the body does not produce enough insulin and is, therefore, unable to convert sugar (glucose) into the energy necessary for daily activity. The disorder affects females and males in approximately 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 Prevalent Health Conditions/Concerns area of NORD Services). Therapies: Standard Treatment for Ataxia Telangiectasia is directed toward control of symptoms. For respiratory infections, therapy with an antibiotic drug, postural drainage (with the head lower than the rest of the body) of the bronchial tubes and lungs, and gammaglobulin injections in some cases may be effective. Avoidance of undue exposure to sunlight may help control spread and severity of dilated blood vessels (telangiectasias). Vitamin E therapy has in some cases been reported to provide temporary relief of some symptoms, but should only be tried under advice and supervision of a physician to avoid toxicity. The drug Diazepam (Valium) may be useful in some cases to help slurred speech and involuntary muscle contractions. Physical therapy may help maintain muscle strength and prevent limb contractures. Care should be taken to ward off infections. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit to persons with Ataxia Telangiectasia and their families. Therapies: Investigational Research on Ataxia Telangiectasia concerning immunology and endocrinology is under way at this time. Developing laboratory procedures for earlier diagnoses and specific therapies are priorities of these research projects. ORPHAN DRUGS Trials of the experimental drug levamisole (used to heighten the immune response) is are underway to test effectiveness on Ataxia Telangiectasia and other disorders involving impaired immune responses. Other trials involve the effects of interleukin-2, interferon and chemotherapeutic agents such as cyclophosphamide. Complications or side effects of these drugs (such as toxicity) have not been fully documented and more extensive research is being pursued. Clinical trials of the orphan drug physostigmine salicylate (Antilirium) for treatment of Ataxia Telangiectasia and other inherited forms of ataxia are underway. For additional information, physicians can contact: Forrest Pharmaceuticals 2510 Metro Blvd. Maryland Heights, MO 64043-00 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 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 Ataxia Telangiectasia, 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 Ataxia Telangiectasia Research Foundation 344 Copa de Oro Road Los Angeles, CA 90077 (213) 476-1218 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 1275 Mamaroneck Avenue White Plains, NY 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 more information on diabetes, contact: American Diabetes Association National Service Center 1660 Duke Street Alexandria, VA 22314 (703) 549-1000 (800) ADA-DISC (800-232-3472) For more information on tumors, contact: 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 TREATMENT OF PATIENTS WITH DEGENERATIVE DISEASES OF THE CENTRAL NERVOUS SYSTEM BY ELECTRICAL STIMULATION OF THE SPINAL CORD: D.M. Dooley, et al.; Confin Neurol (1981, issue 44(1-3)). Pp. 71-76. ATAXIA-TELANGIECTASIA OR LOUIS-BAR SYNDROME: S.L. Conerly, et al.; J Am Acad Dermatol (April 1985, issue 12(4)). Pp.681-696. VASCULAR DISORDERS: Amy S. Paller, M.D.; Dermatologic Clinics: The Genodermatoses. (February 1987, issue 5(1)). Pp. 239-250. CANCER INCIDENCES IN FAMILIES WITH ATAXIA TELANGIECTASIA, Swift, M., et al.; N Eng J Med, December 26, 1991, (issue 325 (26)). Pp. 12831-1836.