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GNE myopathy

Disease definition

GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

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
  • ICD-10: G71.8
  • OMIM: 605820  617158
  • UMLS: C1833373  C1853926
  • MeSH: C536816
  • GARD: 9493
  • MedDRA: -

Detailed information

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