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Friedreich's Ataxia

Definition

Friedreich’s ataxia is a rare, inherited disease. It causes a gradual breakdown of the nervous system. Friedreich’s 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.

The Nervous System
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Causes

Friedreich’s 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’s ataxia that have no family history of the disorder.

Risk Factors

There are no known risk factors other than having a parent with the frataxin gene.

Symptoms

Symptoms can be different for each person. The following list describes the most common symptoms:

  • Leg weakness, including difficulty walking
  • Loss of coordination
  • Difficulty speaking and swallowing
  • Foot deformities
  • Foot ulcers
  • Hearing loss and/or vision loss
  • Eye movement abnormalities
  • Movement disorders such as tremor, dystonia, and chorea

Diagnosis

Your doctor will ask about your symptoms. You will also be asked about your medical history, family history, and current medication. A physical exam will be done. If Friedrich's 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:

  • Genetic testing for the frataxin gene
  • Blood and urine tests
  • Nerve or muscle biopsy

Treatment

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:

  • Physical therapy and rehabilitation to cope with muscle weakness
  • Putting orthotics in your shoes to provide stability and to help with weakness
  • Surgery for correcting foot abnormalities and scoliosis
  • Periodic testing for associated conditions of diabetes and cardiomyopathy

Prevention

There is no known way to prevent this condition.

Revision Information

  • Friedreich’s Ataxia Research Alliance

    http://www.curefa.org

  • National Ataxia Foundation

    http://www.ataxia.org

  • University of Chicago Ataxia Center

    http://ataxia.uchicago.edu

  • International Network of Ataxia Friends

    http://internaf.org

  • Muscular Dystrophy Canada

    http://www.muscle.ca

  • Bradley WG, Daroff RB. Neurology in Clinical Practice . Philadelphia, PA: Butterworth Heinemann; 2004.

  • Friedreich ataxia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated August 29, 2012. Accessed May 20, 2013.

  • Friedrich's ataxia (FA). Muscular Dystrophy Association website. Available at: http://www.mdausa.org/disease/fa.html . Accessed May 20, 2013.

  • Friedreich’s ataxia fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/friedreichs%5Fataxia/detail%5Ffriedreichs%5Fataxia.htm . Updated August 16, 2011. Accessed May 20, 2013.

  • Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci . 2011;303(1-2):1-12.

  • Wilson RB. Therapeutic developments in Friedrich ataxia. J Child Neurol . 2012. Accessed July 31, 2012.