Oculogastrointestinal muscular dystrophy
Oculogastrointestinal muscular dystrophy
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.
Also known as visceral myopathy-familial external ophthalmoplegia syndrome — per MONDO