Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected.Impaired muscle coordination (ataxia) results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear in adulthood or later. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. People lave loss of sensation in the arms and legs, which may spread to other parts of the body. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart problems. Some individuals may develop diabetes. Doctors diagnose Friedreich's ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG, which measures the electrical activity of cells) and genetic testing.
There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.
Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s, 70s, or longer.
Friedreich's ataxia is caused by a mutation in the protein frataxin, which is involved in the function of mitochondria—the energy producing “power plants” of the cell. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin, which could lead to potential ways to reverse the silencing and restore normal gene function.And researchers are using next-generation sequencing (which can quickly identify the structure of millions of small fragments of DNA at the same time) to identify novel genes in Friedreich's ataxia.
Friedreich's Ataxia Research Alliance (FARA)
P.O. Box 1537
Springfield, VA 22151
Fax: (703) 425-0643
4301 Connecticut Avenue, N.W.
Washington, DC 20008-2369
Tel: 202-966-5557; 800-336-GENE (4363)
Muscular Dystrophy Association
National Office - 222 S. Riverside Plaza
Chicago, IL 60606
National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Minneapolis, MN 55447-4752
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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Last Modified February 19, 2016