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Friedreichs Ataxia

Definition

Friedreichs ataxia is a rare, inherited disease. It causes a gradual breakdown of the nervous system. Friedreichs 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    TOP

Friedreichs 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 Friedreichs ataxia that have no family history of the disorder.

Risk Factors    TOP

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

Symptoms    TOP

Symptoms can be different for each person. The most common include:

  • 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    TOP

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 Friedreichs 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    TOP

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    TOP

There are no current guidelines to prevent Friedreichs ataxia.

RESOURCES:

Friedreich’s Ataxia Research Alliance
http://www.curefa.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:

Friedreich ataxia. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T113912/Friedreich-ataxia. Updated May 19, 2016. Accessed September 26, 2016.
Friedreich's ataxia (FA). Muscular Dystrophy Association website. Available at:
...(Click grey area to select URL)
Accessed May 20, 2013.
Friedreich’s ataxia fact sheet. National Institute of Neurological Disorders and Stroke website. Available at:
...(Click grey area to select URL)
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;27(9):1212-1216.
Last reviewed March 2017 by EBSCO Medical Review BoardRimas Lukas, MD
Last Updated: 5/7/2014

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