Alternative Names & Classifications:
Friedreich Ataxia (CLINICAL)
Description
Friedreich's Ataxia is an autosomal recessive genetic disorder caused by a mutation in the FXN gene, which leads to reduced production of frataxin, a protein crucial for mitochondrial function. This lack of frataxin causes degeneration in the spinal cord, peripheral nerves, and cerebellum. Symptoms usually begin in childhood or adolescence and relentlessly worsen over time.