Friedreich's Ataxia

Friedreich's ataxia is a rare, inherited, autosomal recessive neurodegenerative disorder that progressively damages the spinal cord, peripheral nerves, and cerebellum, impairing muscle coordination. It usually begins in childhood or adolescence with difficulty walking, loss of balance, and poor coordination, later affecting speech, vision, and hearing, and many patients also develop scoliosis, diabetes, and a serious heart condition called hypertrophic cardiomyopathy, the leading cause of death in the disease. It is caused by mutations in the FXN gene that reduce production of the protein frataxin, which mitochondria need to build iron-sulfur clusters, and the resulting energy and oxidative-stress problems drive the disease's neurological and systemic effects. It is the most common inherited ataxia, affecting about 1 in 40,000 people of European descent, and while there was previously no cure, the FDA approved the drug omaveloxolone in 2023 as the first treatment, improving motor function in some patients.