Friedreich's Ataxia
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What is Friedreich's Ataxia?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
Related NINDS Publications and Information
Publicaciones en Español
Additional resources from MEDLINEplus
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. 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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
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 800-344-4863 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) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
National Society of Genetic Counselors 401 N. Michigan Avenue Chicago, IL 60611 nsgc@nsgc.org http://www.nsgc.org Tel: 312-321-6834 Fax: 312-673-6972 |
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Last updated December 11, 2007