Oculogastrointestinal muscular dystrophy.
The author reports on four patients (one male, three females) from the same kindred with a newly recognized autosomal recessive condition involving striated and smooth muscle that has been designated oculogastrointestinal muscular dystrophy. It is characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudo-obstruction leading to malnutrition and death before 30 y. Autopsy studies in two cases showed a severe primary myopathy of smooth muscles of the stomach and intestine with intact myenteric plexus and vagus nerves. The proposita notably had myopathic changes of striated muscles but also involvement of the peripheral nerves and central nervous system characterized by demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns.
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007415:Intestinal Obstruction / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009886:Ophthalmoplegia / Q000235:genetics; D010375:Pedigree