What is it?

Friedreich's Ataxia (FRDA or FA), also known as spinocerebellar degeneration is a rare hereditary condition that results in walking difficulties, a loss of sensation in the arms or legs and impaires speech. It is an autosomal recessive genetic disease, caused by mutations in the FXN gene, which makes the frataxin protein. When less frataxin is produced, there is nerve tissue degeneration that causes ataxia, sensory neuron deficit and loss of myelin sheath. The condition’s symptoms usually start between 5-20 years of age. Many of the affected people develop hypertrophic cardiomyopathy as well. Complications also include scoliosis and diabetes mellitus.