Friedreich's ataxia—a rare multisystem disease

Friedreich's ataxia—a rare multisystem disease, Reetz, KathrinCosta, Ana Sofia et al., The Lancet Neurology, Volume 24, Issue 7, 614 - 624 

Friedreich's ataxia is a rare autosomal recessive neurodegenerative disease. Most patients have a homozygous GAA repeat expansion in the FXN gene, resulting in a deficiency of the mitochondrial protein frataxin. Disease onset occurs typically in adolescence but can vary widely, ranging from early childhood to late adulthood. Friedreich's ataxia is increasingly recognised as a multisystem disorder, affecting not only the nervous system, but also the heart and musculoskeletal system, and metabolism. Common extraneural manifestations include cardiomyopathy, which is the most common cause of mortality, and also scoliosis and diabetes.