{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T14:35:39Z","timestamp":1784385339699,"version":"3.55.0"},"reference-count":32,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,11]]},"abstract":"<jats:p>We describe four myotonic dystrophy (DM) patients who developed recurrent intestinal pseudo-obstruction. Some episodes were associated with gastroenteritis, while abdominal crowding may have occurred in one case during the third trimester of pregnancy. In most instances, however, no apparent cause could be identified. Intestinal pseudo-obstruction may occur at any stage of DM. In one of our cases intestinal pseudo-obstruction preceded significant muscle weakness by 15 years. Intestinal pseudo-obstruction is usually treated effectively with conservative measures. These include restriction of oral intake, intravenous fluids, and multiple enemas or colonoscopy. Improved intestinal function was noted in one case treated with the prokinetic agent cisapride. A partial sigmoid resection was performed in three cases with dolichomegacolon. No abnormalities were reported on histological examination. Since intestinal pseudo-obstruction is a rare complication of DM, it is of interest that two of our cases are sibs. Review of published reports showed several reports of familial occurrence of specific complications. These include cardiac conduction disturbances, focal myocarditis, mitral valve prolapse, pilomatrixomas, polyneuropathy, normal pressure hydrocephalus, and dilatation of the urinary tract. Myotonic dystrophy may show a tendency to familial clustering of organ specific involvement.<\/jats:p>","DOI":"10.1136\/jmg.29.11.791","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"791-793","source":"Crossref","is-referenced-by-count":45,"title":["Intestinal pseudo-obstruction in myotonic dystrophy."],"prefix":"10.1136","volume":"29","author":[{"given":"H G","family":"Brunner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B C","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Rieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C J","family":"H\u00f6weler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F T","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1992,11,1]]},"reference":[{"key":"ref_1","article-title":"Myotonic dystrophy","author":"Harper, P.S.","year":"1989","unstructured":"Harper PS. 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Texas Med 1982;82:42-4.","journal-title":"Texas Med"},{"key":"ref_4","first-page":"745","article-title":"Gastrointestinal disturbances","volume-title":"myotonia dystrophica. Gastroenterology 1962; 42","author":"Chiu, V.S.W.; Englert, E.","unstructured":"Chiu VSW, Englert E. Gastrointestinal disturbances in myotonia dystrophica. Gastroenterology 1962;42:745-6."},{"key":"ref_5","first-page":"480","article-title":"Le megacolon dans la maladie de Steinert","volume":"81","author":"Bertrand, L.","year":"1949","unstructured":"Bertrand L. Le megacolon dans la maladie de Steinert. Rev Neurol 1949;81:480-6.","journal-title":"Rev Neurol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1055\/s-0028-1091503","article-title":"Smooth muscle involvement in congenital myotonic dystrophy","volume":"8","author":"Lenard, H.G.; Goebel, H.H.; Weigel, W.","year":"1977","unstructured":"Lenard HG, Goebel HH, Weigel W. Smooth muscle involvement in congenital myotonic dystrophy. 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Br J Anaesth 1985;57: 1119-30.","journal-title":"Br J Anaesth"},{"key":"ref_11","first-page":"285","article-title":"The effects of cisapride on gastric and colonic emptying in dystrophia myotonica","volume":"2","author":"Horowitz, M.; Maddox, A.; Wishart, J.; Collins, P.J.; Shearman, D.J.C.","year":"1987","unstructured":"Horowitz M, Maddox A, Wishart J, Collins PJ, Shearman DJC. The effects of cisapride on gastric and colonic emptying in dystrophia myotonica. 7 Gastroenterol Hepatol 1987;2:285-93."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1073\/pnas.89.2.623","article-title":"Possible influences on the expression of dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy","volume":"89","author":"Beggs, A.H.; Neumann, P.E.; Arahata, K.","year":"1992","unstructured":"Beggs AH, Neumann PE, Arahata K, et al. 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