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.
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.
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.
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.
Friedreich's Ataxia Research Alliance (FARA)
P.O. Box 1537
Springfield, VA 22151
Tel: (703) 426-1576
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
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last Modified April 16, 2014