Friedreich's Ataxia: Unraveling the Mysteries of a Rare and Progressive Neuromuscular Condition An In-depth Look
What is Friedreich's Ataxia?
FDRA (FA) is a rare, progressive, degenerative neurological disorder that causes difficulty with coordination and balance. FA is caused by a genetic defect and usually appears during puberty or adolescence. Symptoms start gradually and tend to worsen over time. There is currently no cure for FA, but treatment options can help manage symptoms.
Causes and Genetics of Friedreich's Ataxia
Friedreich's Ataxia is an autosomal recessive genetic disease caused by a mutation in the FXN gene located on chromosome 9. Normal copies of this gene produce a protein called frataxin that is essential for cellular energy production in mitochondria. The most common mutation is a GAA trinucleotide repeat expansion within the first intron of the FXN gene. This expansion reduces the amount of frataxin produced. Both copies of the FXN gene (one from each parent) must have the GAA repeat expansion for the person to develop FA. A person who only has one mutated copy will be a carrier but usually won't develop any symptoms.
Signs and Symptoms of FA
The progressive signs and symptoms of FA typically appear between the ages of 5 and 15 years. Symptoms start gradually and may include loss of coordination of legs (ataxia) resulting in an unsteady gait, loss of coordination of arms and hands, muscle weakness in the legs that can lead to wheelchair dependency later in the disease, muscle wasting or thinning in the legs, scoliosis or curvature of the spine and diabetes. Additional symptoms may include heart complications, slurred speech, vision problems, hearing loss and impaired thinking abilities. Symptoms worsen over time but usually do not affect life expectancy.
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