Friedreich's Ataxia
National Organization for Rare Disorders, Inc.
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General Discussion
Friedreich's ataxia (FRDA) is a genetic, progressive, neurodegerative movement disorder, with a mean age of onset between 10 and 15 years. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulty walking due to impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop slurred speech (dysarthria), characteristic foot deformities; and irregular lateral or sideways curvature of the spine (scoliosis). FRDA is often associated with cardiomyopathy, a disease of cardiac muscle that may lead to heart failure, which could present as shortness of breath upon exertion and chest pain. Some individuals may also experience irregularities in heart rhythm (cardiac arrhythmias). Some individuals may develop diabetes mellitus.
The symptoms and clinical findings associated with FRDA result primarily from degenerative changes in the sensory nerve fibers at the point where they enter the spinal cord in structures known as dorsal root ganglia. This results in secondary degeneration of nerve fibers in the spinal cord which leads to a deficiency of sensory signals to the cerebellum, the part of the brain that helps to coordinate voluntary movements.
FRDA is caused by abnormalities (mutations) in the FXN gene and people with FRDA inherit a mutation from each parent, so they have mutations in both copies of their FXN gene. This pattern, wherein parents who are clinically unaffected because they only carry a single mutant FXN gene but can have a child who is affected because he / she inherits a mutation from two carrier parents, is called autosomal recessive inheritance.
Supporting Organizations
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
- Website: http://www.diabetes.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: jstone@childneurologyfoundation.org
- Website: http://www.childneurologyfoundation.org
Christopher & Dana Reeve Foundation
- 636 Morris Turnpike, Suite 3A
- Short Hills, NJ 7078
- USA
- Tel: (973)379-2690
- Fax: (973)912-9433
- Tel: (800)225-0292
- Email: prc@ChristopherReeve.org
- Website: http://www.christopherreeve.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
- Website: http://www.curefa.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
- Website: http://rarediseases.info.nih.gov/GARD/
Let Them Hear Foundation
- 1900 University Avenue, Suite 101
- East Palo Alto, CA 94303
- Tel: (650)462-3174
- Fax: (650)462-3144
- Email: info@letthemhear.org
- Website: http://www.letthemhear.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or preguntas@nacersano.org
- Website: http://www.marchofdimes.org and nacersano.org
Movement Disorder Society
- 555 E. Wells Street
- Suite 1100
- Milwaukee, WI 53202-3823
- Tel: (414)276-2145
- Fax: (414)276-3349
- Email: info@movementdisorders.org
- Website: http://www.movementdisorders.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: mda@mdausa.org
- Website: 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
- Website: http://www.ninds.nih.gov/
National Ataxia Foundation
- 2600 Fernbrook Lane Suite 119
- Minneapolis, MN 55447
- USA
- Tel: (763)553-0020
- Fax: (763)553-0167
- Email: naf@ataxia.org
- Website: http://www.ataxia.org
National Scoliosis Foundation
- 5 Cabot Place
- Stoughton, MA 2072
- Tel: (781)341-8333
- Fax: (781)341-8333
- Tel: (800)673-6922
- Email: nsf@scoliosis.org
- Website: http://www.scoliosis.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. 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.
Last Updated: 7/15/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
