Friedreich ataxia is a rare, inherited disease. It causes a gradual breakdown of the nervous system. Friedreich ataxia affects nerves in the brain and spinal cord that control movement. It also affects sensory nerves that help with coordination. In later stages, the disease can cause injury to the heart and pancreas.
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Friedreich ataxia is caused by a problem with a gene called the frataxin gene. This gene is found on chromosome 9q13. To develop this disease, a person must inherit a copy of the defective gene from each parent. However, there are some people with Friedreich ataxia that have no family history of the disorder.
There are no known risk factors other than having a parent with the frataxin gene.
Symptoms can be different for each person. The most common include:
You will be asked about your symptoms. You will also be asked about your medical history, family history, and current medication. A physical exam will be done. If Friedreich ataxia is suspected, you may also see a doctor who specializes in the nervous system.
Images may need to be taken of your bodily structures. This can be done with:
The function of your muscles and nerves may be tested. This can be done with:
The electrical activity of your heart may be assessed. This can be done with:
Your bodily fluids and tissues may be tested. This can be done with:
There is no known cure for this condition.
Long-term management is aimed at maintaining as much function as possible and controlling symptoms. Some treatments that may help include:
There are no current guidelines to prevent Friedreich ataxia.
Friedreich’s Ataxia Research Alliance
National Ataxia Foundation
International Network of Ataxia Friends
Muscular Dystrophy Canada
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Friedreich ataxia. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T113912/Friedreich-ataxia. Updated January 26, 2017. Accessed February 14, 2018.
Friedreich's ataxia (FA). Muscular Dystrophy Association website. Available at: http://mdausa.org/disease/friedreichs-ataxia. Accessed February 14, 2018.
Friedreich’s ataxia fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Friedreichs-Ataxia-Information-Page. Accessed February 14, 2018.
Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. 2011;303(1-2):1-12.
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Last reviewed March 2018 by EBSCO Medical Review Board Rimas Lukas, MD Last Updated: 5/7/2014