A Familial Visceral Myopathy With External Ophthalmoplegia and Autosomal Recessive Transmission

Sinn Anuras, Frank A. Mitros, Thomas V. Nowak, Victor V. Ionasescu, Nelson J. Gurll, James Christensen, Jennifer B. Green

Research output: Contribution to journalArticle

75 Scopus citations

Abstract

A new visceral myopathy family was identified, The disease in this family is transmitted by an autosomal recessive gene. Only 3 patients were identified from approximately 1500 family members. All 3 patients are the products of intermarriage. The patients had gastric atony, dilatation of the entire small bowel, and multiple diverticula throughout. Pathology of the jejunum showed fibrosis and degeneration, mainly of the longitudinal muscle layer, indistinguishable from that of previously reported families. Two of the patients also had ptosis and external ophthalmoplegia. Jejunal manometric studies were performed on the proband’s asymptomatic mother and five siblings. All had normal esophageal manometric studies and upper gastrointestinal xrays. The mother and three siblings had abnormal jejunal manometric studies characterized by the absence of phase 1 in some of the migrating motor complexes and increased motility indices in phase 2. We conclude that familial visceral myopathy can be transmitted by an autosomal recessive gene, and that jejunal manometry is a sensitive technique to identify asymptomatic heterozygotes.

Original languageEnglish (US)
Pages (from-to)346-353
Number of pages8
JournalGastroenterology
Volume84
Issue number2
DOIs
StatePublished - Jan 1 1983
Externally publishedYes

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

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    Anuras, S., Mitros, F. A., Nowak, T. V., Ionasescu, V. V., Gurll, N. J., Christensen, J., & Green, J. B. (1983). A Familial Visceral Myopathy With External Ophthalmoplegia and Autosomal Recessive Transmission. Gastroenterology, 84(2), 346-353. https://doi.org/10.1016/S0016-5085(83)80133-4