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NINDS Friedreich's Ataxia Information Page

Condensed from Friedreich's Ataxia Fact Sheet

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What is Friedreich's Ataxia?

Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. 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 as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most 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 palpitations. 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) and genetic testing.

Is there any treatment?

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 patients 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.

What is the prognosis?

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 become completely incapacitated. Most people with Friedreich's ataxia die in early adulthood if there is significant heart disease, the most common cause of death. Some people with less severe symptoms live much longer.

What research is being done?

Studies have revealed that frataxin, a protein that should normally be present in the nervous system, the heart, and the pancreas, is severely reduced in patients with Friedreich's ataxia. Studies have shown that patients have abnormally high levels of iron in their heart tissue. It is believed that the nervous system, heart, and pancreas may be particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen) because once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to free radical damage. The discovery of the genetic mutation that causes Friedreich's ataxia has added new impetus to research efforts on this disease.

NIH Patient Recruitment for Friedreich's Ataxia Clinical Trials

Organizations

Column1 Column2
Friedreich's Ataxia Research Alliance (FARA)
P.O. Box 1537
Springfield, VA   22151
fara@CureFA.org
http://www.CureFA.org
Tel: (703) 426-1576
Fax: (703) 425-0643

Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC   20008-2369
info@geneticalliance.org
http://www.geneticalliance.org
Tel: 202-966-5557 800 336-GENE (4363)
Fax: 202-966-8553

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ   85718-3208
mda@mdausa.org
http://www.mda.org
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300

National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Suite 119
Minneapolis, MN   55447-4752
naf@ataxia.org
http://www.ataxia.org
Tel: 763-553-0020
Fax: 763-553-0167

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

 
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Prepared by:
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National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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Last updated April 16, 2014