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, an autosomal recessive inheritance.
There are no environmental risk factors; the disease is inherited.
Symptoms may vary. The following list describes the most common symptoms.
Early Symptoms:
- Age of onset: over the age of 25, usually in the early teenage years
- Progressive leg weakness presenting as difficulty walking
- 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
Late Symptoms:
- 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)
- Foot deformities
- Foot ulcers
- Confined to a wheelchair (over 95% of those affected, by age 45)
- Hearing loss
and or vision loss (over 10% of those affected)
- Eye movement abnormalities
Your doctor will ask about your symptoms, including medical history, family history, and medications. Your doctor will also 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 (MRI)—structural imaging of the brain and spinal cord
- Electrocardiogram
and 24-hour Holter Monitoring—to assess the electrical activity of the heart
- Echocardiogram—a test that uses high-frequency sound waves (ultrasound) to examine the size, shape, and motion of the heart
- Genetic testing for the frataxin gene
- Blood (diabetic testing) and urine tests
-
Sural nerve
biopsy
- Genetic testing
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
- Use of orthotics for stability and weakness
- Surgery for correcting foot abnormalities and spinal scoliosis
-
Periodic testing for associated conditions of
diabetes
and
cardiomyopathy
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.
Last reviewed March 2007 by Roshni N. Patel, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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