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Alternative namesSpinocerebellar degeneration
DefinitionFriedreich's ataxia is an inherited form of progressive dysfunction of the cerebellum (the part of the brain responsible for movement and complex behavior), spinal cord, and peripheral nerves.
Causes, incidence, and risk factors
Friedreich's ataxia is an autosomal recessive condition, which means that a person must inherit the defective gene from both parents in order to be affected. It is a polyneuropathy, which means that there is damage to multiple nerves
The condition affects 1 in 50,000 people. Symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Vision, particularly color vision, is often mildly affected. Hearing loss occurs in about 10% of patients.
Abnormal muscle control and tone lead to spinal changes and scoliosis , or kyphoscoliosis may develop. Individuals with Friedreich's ataxia may also have hammer toe and high arches .
Friedreich's ataxia results from lack of a specific protein (frataxin) in cells of the brain, nerves, heart, and pancreas. The gene encoding this protein is susceptible to a particular kind of DNA mutation called triplet repeat expansion. What happens is that a sequence of three DNA "letters" is copied more times than is needed, and typically each time the disease is passed on, the number of repeats increases and the symptoms start earlier and become more severe. It is easily and reliably tested for in patient DNA from a blood sample.
Signs and testsThe doctor will look for the following signs:
There is no known cure for Friedreich's ataxia. The goal of treatment is to control symptoms and maintain general health. Physical activity is encouraged, and physical therapy may be beneficial.
As the disease may be associated with free radical damage to cells, antioxidants such as Vitamin E and coenzyme Q10 are frequently prescribed. There is no systematic scientific evidence of the efficacy of these supplements. Research is ongoing on the use of a coenzyme Q10 derivative (idebonone) in Friedreich ataxia. In preliminary trials, it slowed the development of heart failure in a small number of patients.
Safety must be considered when there is loss of balance or sensation. Safety railings, walkers, or other appliances may help. If the person loses feeling in a body part, injuries can be prevented by testing bath water to prevent burns , visually inspecting the body part to check for injuries, using protective shoes and helmets, and other measures.
Support GroupsAdditional resources are available from the Friedreich's Ataxia Research Alliance ( Additional resources are available from the Fri ).
Expectations (prognosis)This is a life-shortening disorder and currently there is no cure. Most patients will be confined to a wheelchair by young adulthood. Most also develop untreatable Heart failure or arrhythmias, which shortens the life expectancy. Up to one third of patients develop diabetes, which responds to diabetes treatment.
Calling your health care providerCall your health care provider if muscle weakness , numbness , loss of coordination , loss of reflexes, or other symptoms of Friedreich's ataxia occur (particularly if there is a family history of the disorder).
PreventionGenetic counseling and testing are recommended for prospective parents with a family history of Friedreich's ataxia.
Update Date: 2/5/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT