Diseases Studied

Neuropathy, ataxia and retinitis pigmentosa syndrome (NARP)

Alternative Names: Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa

Disease Category: Mitochondrial Disorders

A rare, inherited disorder caused by genetic mutations in mitochondria (specialized cell structures that produce energy). It is characterized by neuropathy, which results in muscle weakness and abnormal sensations such as tingling, numbness, or pain in the limbs; ataxia (lack of coordination and balance); and retinitis pigmentosa (deterioration of the retina, or light-sensitive tissues lining the back of the eye), leading to vision loss. Other symptoms may include hearing loss, seizures, intellectual disability, and electrical abnormalities of the heart.

Research groups studying this disease