Rare Diseases

Friedreich's ataxia is one of the rare inherited nervous system disorder which causes movement abnormalities like slowed voluntary movement leading to gait disturbance and decreased coordination. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens gradually with time. In 1860, Nicholaus Friedreich, a German doctor first described the condition. The disease is caused by a defect (mutation) in a gene labeled as Frataxin (FXN), its inheritance not gender specific. The onset of symptoms usually begins before 20 years of age, and disease progression is relentless. According to the National Institute of Neurological Disorders and St...