Friedreich's Ataxia

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Friedreich's Ataxia 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.


  • FRDA

Disorder Subdivisions

  • None

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

Child Neurology Foundation

201 Chicago Ave, #200
Minneapolis, MN 55415
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430

Christopher & Dana Reeve Foundation

636 Morris Turnpike, Suite 3A
Short Hills, NJ 7078
Tel: (973)379-2690
Fax: (973)912-9433
Tel: (800)225-0292

Friedreich's Ataxia Research Alliance

533 W. Uwchlan Ave.
Downingtown, VA 19335
Tel: (484)879-6160
Fax: (484)872-1402

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

Let Them Hear Foundation

1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763

Movement Disorder Society

555 E. Wells Street
Suite 1100
Milwaukee, WI 53202-3823
Tel: (414)276-2145
Fax: (414)276-3349

Muscular Dystrophy Association

3300 East Sunrise Drive
Tucson, AZ 85718-3208
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717

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

National Ataxia Foundation

2600 Fernbrook Lane Suite 119
Minneapolis, MN 55447
Tel: (763)553-0020
Fax: (763)553-0167

National Scoliosis Foundation

5 Cabot Place
Stoughton, MA 2072
Tel: (781)341-8333
Fax: (781)341-8333
Tel: (800)673-6922

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  12/25/1969
Copyright  2015 National Organization for Rare Disorders, Inc.