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Friedreich’s ataxia

A rare inherited neurodegenerative disease caused by mutations (usually an extension of the GAA trinucleotide repeat) in the FXN gene that results in reduced production of frataxin, a mitochondrial protein needed for energy production. It is transmitted in an autosomal recessive manner and usually begins in childhood or adolescence. Symptoms include progressive ataxia of gait and limbs, loss of coordination, muscle weakness, dysarthria, scoliosis, loss of reflexes, and sensory neuropathy. Many patients develop cardiomyopathy, less often diabetes. There is no treatment that eliminates the cause; Therapy is aimed at controlling symptoms, conducting physiotherapy and monitoring the condition of the heart and metabolism.