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Oculogastrointestinal muscular dystrophy

Synonym(s) Visceral myopathy-familial external ophthalmoplegia syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • G71.0
  • C1848586
  • C536350
MedDRA -


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.

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