The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome
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
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.