Friedreich's Ataxia

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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

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.

RESOURCES

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

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 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.

Revision Information

Reviewer: Rimas Lukas, MD ; Michael Woods, MD
Review Date: 05/2013 -
Update Date: 05/20/2013 -

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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