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Oculogastrointestinal muscular dystrophy

Disease definition

Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.

ORPHA:1876

  • Synonym(s):
    • Visceral myopathy-familial external ophthalmoplegia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 277320
  • UMLS: C1848586
  • MeSH: C536350
  • GARD: 5496
  • MedDRA: -

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