$Unique_ID{BRK03503} $Pretitle{} $Title{Ataxia, Friedrich's} $Subject{Ataxia, Friedrich's Familial Ataxia Friedreich's Disease Friedreich's Tabes Hereditary Ataxia Spinocerebellar Ataxia Spinal Ataxia, hereditofamilial Marie's Ataxia Charcot-Marie-Tooth Disease Ataxia Telangiectasia Olivopontocerebellar Atrophy Scoliosis} $Volume{} $Log{} Copyright (C) 1984, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 7: Ataxia, Friedrich's ** IMPORTANT ** It is possible the main title of the article (Friedrich's Ataxia) 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 Familial Ataxia Friedreich's Disease Friedreich's Tabes Hereditary Ataxia Spinocerebellar Ataxia Spinal Ataxia, hereditofamilial Information on the following disorders can be found in the Related Disorders section of this report: Marie's Ataxia Charcot-Marie-Tooth Disease Ataxia Telangiectasia Olivopontocerebellar Atrophy Scoliosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Friedreich's ataxia is a progressive, hereditary neuromuscular syndrome that generally becomes apparent in childhood or adolescence. Slow deterioration (degenerative changes) of the spinal chord and brain occur. These degenerative changes affect speech and movement (motor coordination) producing numbness or weakness of the arms and legs, curvature of the spine (secondary lateral scoliosis), and lower limb paralysis. Although the disorder is progressive and treatment is symptomatic, unexplained sudden (spontaneous) remissions of 5 to 10 years in duration have been reported. Symptoms The primary symptom of Friedreich's Ataxia is progressive weakness of the legs, which may appear as a staggering, lurching way of walking (gait), or trembling when the patient is standing still. Ataxia is defined as a failure of muscle coordination that generally results in an unsteady gait. Partial loss of the sense of touch or sensitivity to pain and temperature may also occur. With time, reflexes in the legs may slow or be absent, and a high- arched foot may develop with overextension (hyperextension) of the big toe. Involvement of the throat muscles may lead to impaired swallowing and choking and may cause difficulty in eating. The intellect and emotions are rarely affected. Lateral or sideways curvature of the spine (scoliosis), diabetes mellitus, or degenerative changes in the heart (cardiomyopathy) may occur but are not necessary for a differential diagnosis. Symptoms of Friedreich's Ataxia are caused by the gradual deterioration (degeneration) of nerve cells on the back portion of the spinal nerves (the dorsal ganglia), spinal cord and brain. Causes Friedreich's Ataxia is usually inherited as a recessive genetic trait. Another form 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 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.) During 1988 scientists located a genetic marker for Friedreich's Ataxia which is located on chromosome 9 (proposed on the proximal short arm, location 9p22). The marker pinpoints the location on the chromosome where the defective gene is located. Once the exact gene is cloned, scientists hope to identify the defective protein and understand how it causes Friedreich's Ataxia. New treatments may then be developed to alter progression of the disease, and genetic tests will more readily identify carriers of the gene. Affected Population Although Friedreich's Ataxia can be present at birth, symptoms usually first appear between the ages of 8 and 15 years. Estimates of occurrence in the United States range from 2,000 or 3,000 cases to as many as 20,000. A more precise estimate is difficult to arrive at as many cases are likely the result of misdiagnosis. Friedreich's Ataxia is the most common of the various forms of hereditary ataxias. Related Disorders Symptoms of the following disorders can be similar to those of Friedreich Ataxia. Comparisons may be useful for differential diagnosis. Ataxia is a group of disorders which are characterized by an unsteady gait caused by the failure of muscular coordination. 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 in the Rare Disease Database.) Marie's Ataxia is a hereditary disorder that affects the brain (cerebellum) and causes a lack of muscle coordination. The first symptom is usually an unsteady walk or gait. Progressive degeneration of spinal nerves leads to tremors and a wasting (atrophy) of the muscles in the arms, legs, head and neck. Marie's Ataxia can appear in either early adulthood or in middle age. The symptoms of Marie's Ataxia may include abnormal reflexes, muscle contractions, and a decrease in perception of pain or touch. (For more information on this disorder, choose "Marie's Ataxia" 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 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). Ataxia Telangiectasia, also known as Louis-Bar Syndrome, is an inherited progressive cerebellar ataxia that is characterized by the loss of motor coordination in the limbs and head. This form of ataxia usually begins in infancy. An early sign of this disorder is impaired muscle coordination which is most evident when walking. At 3 to 6 years of age dilated blood vessels (telangiectasias) appear in the eyes. These widened blood vessels also appear eventually on the face and the roof of the mouth. There is an increase in the risk of sinus and respiratory infections. Patients with Ataxia Telangiectasia are also more susceptible to tumors (neoplasms) and premature aging. In some cases this disease has been associated with an immune deficiency (IgA or IgE). Mental development may be normal in the early stages of this disorder but loss of intellectual capacities may occur during the 2nd decade of life. Ataxia Telangiectasia may be misdiagnosed as Friedreich's Ataxia until Telangiectasias appear. (For more information on this disorder, choose "Ataxia Telangiectasia" as your search term in the Rare Disease Database). Olivopontocerebellar Atrophy (OPCA) is a group of five inherited forms of ataxias (impaired ability to coordinate movement). It is characterized by the progressive neurological degeneration (gradual deterioration) affecting certain areas of the brain. The loss of these brain cells (neurons) may result in impaired muscle coordination, tremor, involuntary movements 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). Therapies: Standard Treatment of Friedreich's Ataxia is symptomatic and supportive. Continuous medical supervision to avoid potential complications involving the heart, lungs, spine, bones and muscles are recommended. Prevention of pneumonia is a challenge in the care of people in the advanced stages of Friedreich's Ataxia. Heart problems and/or diabetes associated with Friedreich's Ataxia may be treated with medication. The patient may also be more susceptible to infection. Insulin is usually effective in controlling Diabetes Mellitus. Vision and hearing problems may be alleviated with either corrective devices, drugs, or in some cases surgery. Mental functions usually remain unaffected but emotional strain can affect patients and their families. In such cases, psychological counseling may be helpful. Genetic counseling can assist many patients and families when they are affected by one of the hereditary ataxias. Prenatal diagnosis is available for pregnant women with Friedreich's Ataxia. Physical therapy may be helpful when recommended by a physician. Various aids may assist muscular movement. Orthopedic surgery or braces may help curvature of the spine and abnormalities of the feet, but should be carefully considered after consultation with a neurologist and orthopedist. Drugs may be useful in treating some symptoms of Friedreich's Ataxia. Propanalol 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. Other treatment is symptomatic and supportive. Therapies: Investigational Treatment for Friedreich's Ataxia with a multiprogrammable spinal cord stimulator involves epidural spinal electrostimulation (ESES). This is a medical device under investigation for treatment of motor dysfunction. The device can be surgically implanted over the spine and may be of therapeutic benefit to patients with some types of Ataxia as well as other neuromuscular disorders. The procedure may be tried when conservative measures prove ineffective. The goal is to increase the range of mobility and alleviate muscle spasms and pain. For further information on experimental ESES devices, physicians may contact: Neuromed 5000 Oakes Rd. Ft. Lauderdale, FL 33314 (305) 584-3600 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 Friedreich's Ataxia, 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 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 For More Information on Scoliosis, contact: National Scoliosis Foundation, Inc. 72 Mount Auburn St. Watertown, MA 02172 (617) 926-0397 For More Information on Diabetes, contact: American Diabetes Association National Service Center 1660 Duke Street Alexandria, VA 22314 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 The following organization provides clinical services for people with Friedreich's Ataxia including the provision of orthopedic aids, recreation at summer and winter camps, and transportation assistance. Muscular Dystrophy Association, National Office 3561 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 References BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 203-204. MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1184-1186. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2138. THE FRIEDREICH ATAXIA GENE ASSIGNED TO CHROMOSOME 9q13-Q21 BY MAPPING TIGHTLY LINKED MARKERS AND SHOWS LINKAGE DISEQUILIBRIUM WITH D9S15. A. Hanauer, M. Chery, R. Fujita, A.J. Driesel, S. Gilgenkfrantz and J.L. Mandel; American Journal of Human Genetics (Jan. 1990; 46(1)): Pp. 133-137.