/oculogastrointestinal muscular dystrophy

oculogastrointestinal muscular dystrophy

Rare Disease

MONDO:0010181

Also Known As

visceral myopathy-familial external ophthalmoplegia syndromefamilial visceral myopathy with external ophthalmoplegiaintestinal pseudoobstruction with external ophthalmoplegiamuscular dystrophy, oculogastrointestinalvisceral myopathy - familial external ophthalmoplegiavisceral myopathy, familial, with external ophthalmoplegia

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.