Friedreich Ataxia

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by GAA trinucleotide repeat expansion in the FXN gene, which encodes frataxin protein. Frataxin is essential for mitochondrial function and iron homeostasis; when deficient, mitochondrial dysfunction and iron accumulation damage neurons and cardiac muscle. The disease causes progressive degeneration of the posterior columns and spinocerebellar tracts of the spinal cord, as well as the dorsal root ganglia, resulting in loss of coordination (ataxia), weakness, sensory loss, and speech impairment. Hypertrophic cardiomyopathy develops in 90% of patients and is the primary cause of death. The disease typically begins in late childhood or early adulthood and progresses relentlessly, causing progressive mobility loss, speech and swallowing difficulties, and cardiac dysfunction. Lifespan is typically reduced by 10-15 years, with average life expectancy around age 50.