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GNE myopathy

Disease definition

Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.

ORPHA:602

  • Synonym(s):
    • DMRV
    • Distal myopathy with rimmed vacuoles
    • Distal myopathy, Nonaka type
    • HIBM2
    • Hereditary inclusion body myopathy type 2
    • IBM2
    • Inclusion body myopathy type 2
    • Nonaka myopathy
    • Quadriceps-sparing myopathy
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adolescent, Adult, Elderly
  • ICD-10: G71.8
  • OMIM: 605820  617158
  • UMLS: -
  • MeSH: C536816
  • GARD: 9493
  • MedDRA: -

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