Friedreich’s ataxia is a very rare inherited disease that causes progressive damage to the nervous system. Ataxia refers to coordination problems and unsteadiness. Friedreich’s ataxia causes degeneration of neurons in the spinal cord that control movement, as well as the sensory nerves that assist coordination. In later stages, additional cell injury can develop in the heart and pancreas.
The cause of Friedreich’s ataxia is a mutation in the frataxin gene, which is located on chromosome 9q13. To develop this disease, a person must inherit a copy of the defective gene from each parent. However, most cases are sporadic, without family history of the disorder.
Symptoms may vary. The following list describes the most common symptoms:
Your doctor will ask about your symptoms, including medical history, family history, and medications. Your doctor will also perform a physical exam. If this disorder is suspected, you may also see a neurologist, a doctor who specializes in the nervous system.
Tests may include:
There is no known cure for this condition.
Long-term management is aimed at maximizing function and controlling symptoms:
As the exact role of the protein frataxin is clarified, treatments may emerge. Studies are ongoing to assess the role of antioxidants, coenzyme Q 10 , and vitamin E .
RESOURCES:
Friedreich’s Ataxia Research Alliance
http://www.faresearchalliance.org
Genetic Alliance
http://www.geneticalliance.org
National Ataxia Foundation
http://www.ataxia.org
CANADIAN RESOURCES:
International Network of Ataxia Friends
http://internaf.org/
Muscular Dystrophy Canada
http://www.muscle.ca/
References:
Bradley WG, Daroff RB. Neurology in Clinical Practice . Philadelphia, PA: Butterworth Heinemann; 2004.
Friedreich’s ataxia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Accessed May 12, 2008
Friedreich’s ataxia. National Library of Medicine website. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm . Accessed September 12, 2005.
Friedreich’s ataxia fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm . Accessed September 12, 2005.
Nashatizadeh, Muhammad M. Ataxia. In: Gilman S, ed. MedLink Neurology. San Diego, CA: MedLink Corporation. MedLink website. Available at: http://www.medlink.com . Accessed May 12, 2008.
Last reviewed January 2009 by J. Thomas Megerian, MD, PhD, FAAP
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