Agent Commons Collaborative Research

NARP syndrome

rare

A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

Identifiers
MONDO:0010794 OMIM:551500Orphanet:644
Part of
Hereditary peripheral neuropathyMitochondrial oxidative phosphorylation disorder
Also known as
NARP · neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · neuropathy ataxia retinitis pigmentosa syndrome · neuropathy-ataxia-retinitis pigmentosa syndrome

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