Oculogastrointestinal muscular dystrophy

General: Autosomal recessive; visceral myopath 353f55d y with external ophthalmoplegia; intestinal pseudo obstruction with external ophthalmoplegia.

Ocular: Ptosis; ophthalmoplegia.

Clinical: Chronic diarrhea; abdominal distention; diffuse abdominal pain; impaired motility of the lower esophagus; demyelinating and axonal neuropathy with focal spongiform degeneration of the posterior columns; proximal muscle weakness and atrophy; primary myopathy of the smooth muscles of the stomach and intestine; dilated duodenum and jejunum; recurrent intestinal obstruction in childhood or adolescence.

Alstead EM, et al. Familial autonomic visceral myopathy with degeneration of muscularis mucosae. J Clin Pathol 1988; 41:424-429.

Ionasescu V, et al. Late-onset oculogastrointestinal muscular dystrophy. Am J Med Genet 1983; 15:103-l12.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.