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. However, most cases are sporadic, without family history of the disorder.
There are no environmental risk factors. The disease is inherited.
Symptoms may vary. The following list describes the most common symptoms:
Age of onset: under the age of 25, usually in the early teenage years
Progressive leg weakness (eg, difficulty walking)
Ataxia—incoordination and imbalance affecting limbs and gait
Impaired sensation—especially "position sense" in the feet
Difficulty speaking and swallowing—decreased coordination of the tongue
Loss of tendon reflexes in all limbs
Atrophy of muscles
—curving of spine (affects 85% of people with this condition)
Confined to a wheelchair (by age 45, occurs in 95% of those affected)
and or vision loss (over 10% of those affected)
Eye movement abnormalities
Movement disorders (eg, tremor, dystonia, chorea)
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 doctor who specializes in the nervous system.
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