What is Friedreich's Ataxia?
FDRA (FA) is an inherited neurodegenerative disorder that causes progressive loss of coordination and balance. It affects the nerve cells in the brain and spinal cord. The most common early symptoms are problems with walking and balance that slowly worsen over time. FA is typically diagnosed in childhood or early adulthood.
Friedreich's Ataxia is an autosomal recessive genetic disease caused by a GAA trinucleotide repeat expansion mutation in the frataxin gene (FXN) located on chromosome 9. This mutation causes reduced levels of the protein frataxin in the body. Frataxin plays a role in cellular iron transport and regulation of oxidative phosphorylation in the mitochondria. Reduction of frataxin levels leads to oxidative stress and mitochondrial dysfunction which causes degeneration of nerves in the spinal cord and peripheral nerves. A person requires two copies of the FXN gene mutation, one from each parent, to develop FA. About 1 in every 50,000 people carries one copy of the mutation but does not develop the disease.
Early Symptoms of Friedreich's Ataxia
The initial and most common early symptom is poor coordination of legs (ataxia) which leads to a wide-based or unsteady clumsy gait. Affected individuals also experience difficulty with balance, performing manual tasks such as writing or buttoning clothes, and problems with speech such as slurring. Muscle weakness in the legs is another early sign. Loss of sensation in the feet and lower legs is also common. Scoliosis or curvature of the spine develops in about two-thirds of people with FA over time.
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