Smooth Muscle Involvement in Congenital Myotonic Dystrophy

Lenard, H. G.; Hh, Goebel; Weigel, Winnie

doi:10.1055/s-0028-1091503

Cited by 27 publications

(4 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is unknown which part of this organ is mainly affected in CMyD, but the muscle layer is likely responsible to its dysfunction. It may be informative that in electron microscopic studies, the only abnormality in the appendix specimens from the CMyD patient with constipation owing to poor peristalsis was widely spaced smooth muscle cells 8 . Such an abnormality would be responsible for the alteration in the contractility of bile canaliculi and bile ductules, possibly leading to incomplete biliary obstruction and impaired bile excretion 9 .…”

Section: Discussionmentioning

confidence: 99%

Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis

Sumi¹,

Kusumoto²,

Tagawa³

et al. 2005

Pediatrics International

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis

Sumi¹,

Kusumoto²,

Tagawa³

et al. 2005

Pediatrics International

View full text Add to dashboard Cite

“…6 An interesting model that may explain such clustering of apparently rare complications was recently proposed by Beggs et al,"2 who found deletions in the dystrophin gene in three out of 23 patients with a clinical diagnosis of Fukuyama congenital muscular dystrophy (FCMD). They suggested that the FCMD phenotype in these patients could be explained on the basis of an interaction of heterozygosity for FCMD and hemizygosity for the dystrophin mutation.…”

Section: Discussionmentioning

confidence: 99%

Intestinal pseudo-obstruction in myotonic dystrophy.

Brunner

Hamel

Rieu

et al. 1992

Journal of Medical Genetics

View full text Add to dashboard Cite

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 pseudoobstruction may occur at any stage of DM. In one of our cases intestinal pseudoobstruction preceded significant muscle weakness by 15 years. Intestinal pseudoobstruction 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 pseudoobstruction 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. (I Med Genet 1992;29:791-3) In myotonic dystrophy (DM), smooth muscle involvement can be shown in most patients. Swallowing difficulties are a major concern and may lead to aspiration.' Symptomatic disturbance of colonic motility may occur with colicky abdominal pain similar to spastic colon. X ray studies may be normal or show frank megacolon. Occasionally patients develop a severe disturbance of intestinal motility such as volvulus or intestinal pseudoobstruction.2' We here report on four DM patients who developed this complication. This woman was born in 1947. She is the sister of case 1. Her first pregnancy was complicated by polyhydramnios. A son was born who died of respiratory insufficiency. A cardiac defect was suspected, but no abnormality was identified at necropsy. The patient became pregnant again and delivered a normal daughter. At the age of 28, myotonic dystrophy was diagnosed during family studies. During her third pregnancy at the age of 29, she developed acute ileus at 28 weeks, believed to be owing to pressure of the uterus against the rectosigmoid. A temporary colostomy was performed and she delivered a healthy girl on the same evening. The child weighed 1880 g and subsequently did well. The colostomy was closed two weeks after delivery. At the age of 30 years, she was admitted with crampy abdominal pain, constipation, and vomiting, which resolved spontaneously. X ray studies showed megacolon. A rectal biopsy showed no evidence of Hirschsprung's disease. Two years later, she was readmitted with ileus thought to result from volvulus of the sigmoid. A laparotomy was performed during which the obstruction was reli...

show abstract

“…Otras hipótesis sugieren una deficiente inervación del músculo liso, infiltración grasa de las paredes de las vísceras huecas, fibrosis de estas paredes o, incluso, degeneración del músculo liso. Para estas hipótesis no hay, sin embargo, estudios concluyentes [90][91][92][93] .…”

Section: Afectación Gastrointestinalunclassified