Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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