Friedreich’s ataxia is a very rare inherited disease that causes progressive damage to the nervous system. Ataxia refers to coordination problems and unsteadiness. Friedreich’s ataxia causes degeneration of neurons in the spinal cord that control movement, as well as the sensory nerves that assist coordination. In later stages, additional cell injury can develop in the heart and pancreas.
The cause of Friedreich’s ataxia is a mutation in the frataxin gene which is located on chromosome 9q13. To develop this disease, a person must inherit a copy of the defective gene from each parent.
There are no environmental risk factors; the disease is inherited.
Symptoms may vary. The following list describes the most common symptoms.
- Age of onset: <25 years
- Progressive leg weakness
- Ataxia–incoordination and imbalance affecting limbs and gait
- Impaired sensation–especially 'position sense' in the feet
- Loss of tendon reflexes in the legs
- As the disease progresses, in addition to nervous system involvement, heart failure and diabetes develop
- Difficulty speaking and swallowing–decreased coordination of the tongue
- Loss of tendon reflexes in all limbs
- Atrophy of muscles
- Scoliosis–curving of spine (affects 85% of people with this condition)
- Confined to a wheelchair (>95% of those affected, by age 45)
- Hearing loss (<10% of those affected)
Your doctor will ask about your symptoms, including medical history, family history, and medications. Next he or she will perform a physical exam. If this disorder is suspected, you may also see a neurologist, a specialist in the diagnosis and treatment of diseases involving the nervous system.
Tests may include the following:
- Electromyography and nerve conduction studies: To assess the function of the muscles and nerves
- Computerized tomography or magnetic resonance imaging: Structural imaging of the brain and spinal cord
- Electrocardiogram and 24-hour holter monitoring: To assess the electrical activity of the heart
- Genetic testing for the frataxin gene
- Blood and urine tests
There is no known cure for Friedreich's ataxia.
Long term management is aimed at maximizing function and controlling Symptoms:
- Physical therapy and rehabilitation to cope with muscle weakness
- Surgery for correcting foot abnormalities and spinal scoliosis
- As the exact role of frataxin is clarified, several theoretical treatments may emerge. Current studies are ongoing to assess a role for antioxidants, coenzyme Q10, and vitamin E.