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.
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.
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
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
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:
- Reviewer: Rimas Lukas, MD
- Review Date: 01/2015 -
- Update Date: 05/07/2014 -