Orphanet: Search a disease

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

NARP syndrome

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
    • Neuropathy-ataxia-retinitis pigmentosa syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Childhood
  • ICD-10: E88.8
  • OMIM: 551500
  • UMLS: C1328349
  • MeSH: -
  • GARD: 262
  • MedDRA: 10062940

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.