Ataxia, Friedreich's / Disease

Diseases & Conditions

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Ataxia, Friedreich's

Synonyms of Ataxia, Friedreich's

FRDA
Friedreich's Disease
Friedreich's Tabes
Hereditary Ataxia, Friedrich's Type
Spinal Ataxia, Hereditofamilial

Disorder Subdivisions

General Discussion
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.

Organizations related to Ataxia, Friedreich's

American Diabetes Association
National Call Center
Alexandria VA 22311
Phone #: 703-549-1500
800 #: 800-342-2383
e-mail: askADA@diabetes.org
Home page: http://www.diabetes.org
Christopher Reeve Paralysis Foundation
500 Morris Ave
Springfield NJ 07081
Phone #: 973-379-2690
800 #: 800-225-0292
e-mail: info@crof.org
Home page: http://www.crpf.org,
Friedreich's Ataxia Research Alliance
P.O. Box 1537
Springfield VA 22151
Phone #: 703-426-1576
800 #: --
e-mail: fara@CureFA.org
Home page: http://www.CureFA.org
Let Them Hear Foundation
1900 University Ave #101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-344-4863
e-mail: mda@mdausa.org
Home page: http://www.mdausa.org
National Ataxia Foundation
2600 Fernbrook Lane n, Suite 119
Minneapolis MN 55447-4752
Phone #: 763-553-0020
800 #: --
e-mail: naf@ataxia.org
Home page: http://www.ataxia.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/
National Scoliosis Foundation
5 Cabot Place
Stoughton MA 02072
Phone #: 781-341-6333
800 #: 800-673-6922
e-mail: nsf@scoliosis.org
Home page: http://www.scoliosis.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html