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Neuropathy ataxia and retinitis pigmentosa [Supplementary Concept]

A mitochondrial myopathy characterized by sensory neuropathy (pain, numbness, or tingling) in the arms and legs beginning in childhood or early adulthood, MUSCLE WEAKNESS, ATAXIA, and vision loss due to retinitis pigmentosa. Affected children may also present with LEARNING DISABILITIES and older adults may experience DEMENTIA. Mutations in the MTATP6 gene have been identified. OMIM: 551500

Date introduced: August 25, 2010

MeSH Unique ID: C537396

Heading Mapped to:

Entry Terms:

  • Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa
  • Neuropathy, Ataxia, Retinitis Pigmentosa syndrome
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
  • NARP syndrome

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