Important It is possible that the main title of the report Ataxia, Friedreich's is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Hereditary Ataxia, Friedrich's Type
Spinal Ataxia, Hereditofamilial
Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria); and rapid, involuntary eye movements (nystagmus). Friedreich's Ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath upon exertion (dyspnea), chest pain, and irregularities in heart rhythm (cardiac arrythmias). Some affected individuals may also develop diabetes mellitus, a condition in which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight loss, lack of appetite, fatigue, and blurred vision.
Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord.
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
National Ataxia Foundation 2600 Fernbrook Lane Suite 119 Minneapolis, MN 55447 USA Tel: (763)553-0020 Fax: (763)553-0167 Email: email@example.com Internet: http://www.ataxia.org
National Scoliosis Foundation 5 Cabot Place Stoughton, MA 02072 Tel: (781)341-8333 Fax: (781)341-8333 Tel: (800)673-6922 Email: firstname.lastname@example.org Internet: http://www.scoliosis.org
American Diabetes Association 1701 N. Beauregard Street Alexandria, VA 22311 Tel: (703)549-1500 Fax: (703)549-6995 Tel: (800)342-2383 Email: askADA@diabetes.org Internet: http://www.diabetes.org
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 USA Tel: (520)529-2000 Fax: (520)529-5300 Tel: (800)572-1717 Email: email@example.com Internet: http://www.mda.org/
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
Canadian Association for Familial Ataxias - Claude St-Jean Foundation 3800 Radisson Street Office 110 Montreal Quebec, H1M 1X6 Canada Tel: 5143218684 Tel: 8553218684 Email: firstname.lastname@example.org Internet: http://www.lacaf.org
Friedreich's Ataxia Research Alliance 533 W. Uwchlan Ave. Downingtown, VA 19335 USA Tel: (484)879-6160 Fax: (484)872-1402 Email: info@cureFA.org Internet: http://www.curefa.org
Christopher & Dana Reeve Foundation 636 Morris Turnpike, Suite 3A Short Hills, NJ 07078 USA Tel: (973)379-2690 Fax: (973)912-9433 Tel: (800)225-0292 Email: prc@ChristopherReeve.org Internet: http://www.christopherreeve.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Let Them Hear Foundation 1900 University Avenue, Suite 101 East Palo Alto, CA 94303 Tel: (650)462-3174 Fax: (650)462-3144 Email: firstname.lastname@example.org Internet: http://www.letthemhear.org
Child Neurology Foundation 201 Chicago Ave, #200 Minneapolis, MN 55415 USA Tel: (952)641-6100 Fax: (952)881-6276 Tel: (877)263-5430 Email: email@example.com Internet: http://www.childneurologyfoundation.org
Movement Disorder Society 555 E. Wells Street Suite 1100 Milwaukee, WI 53202-3823 Tel: (414)276-2145 Fax: (414)276-3349 Email: firstname.lastname@example.org Internet: http://www.movementdisorders.org
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