Friedreich Ataxia

Friedreich ataxia is an autosomal recessive spinocerebellar ataxia caused by GAA trinucleotide repeat expansions in the FXN gene, leading to frataxin deficiency. Clinical features include progressive gait and limb ataxia, dysarthria, cardiomyopathy, and scoliosis. Pathophysiology involves mitochondrial dysfunction, oxidative stress, and neurodegeneration of dorsal root ganglia, spinocerebellar tracts, and cerebellum. Diagnosis relies on genetic testing and clinical evaluation. Management is supportive, including physical therapy, cardiac monitoring, and symptomatic treatment; prognosis is guarded, with progressive neurological and systemic complications.