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Gastrointestinal manifestations in myotonic muscular dystrophy

World Journal of Gastroenterology 2006年第12期12卷 1821-1828页

作者： Massimo Bellini Sonia Biagi Cristina Stasi Francesco Costa Maria Gloria Mumolo Angelo Ricchiuti Santino Marchi Gastroenterology Unit Department of Internal MedicineUniversity of PisaItaly

myotonic dystrophy （MD） is characterized by myotonic phenomena and progressive muscular weakness. Involvement of the gastrointestinal tract is frequent and may occur at any level. The clinical manifestations have previously been attributed to motility disorders caused by smooth muscle damage, but histologic evidence of alterations has been scarce and conflicting. A neural factor has also been hypothesized. In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported. Digestive symptoms may be the first sign of dystrophic disease and may precede the rnusculo-skeletal features. The impairment of gastrointestinal function may be sometimes so gradual that the patients adapt to it with little awareness of symptoms. In such cases routine endoscopic and ultrasonographic evaluations are not sufficient and targeted techniques （electrogastrography, manornetry, electromyography, functional ultrasonography, scintigraphy, etc.） are needed. There is a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances whereas a positive correlation with the duration of the skeletal muscle disease has been reported. The drugs recommended for treating the gastrointestinal complaints such as prokinetic, antidyspeptic drugs and laxatives, are mainly aimed at correcting the motility disorders. Gastrointestinal involvement in MD remains a complex and intriguing condition since many important problems are still unsolved. Further studies concentrating on genetic aspects, early diagnostic techniques and the development of new therapeutic strategies are needed to improve our management of the gastrointestinal manifestations of MD.

关键词： myotonic dystrophy Digestive disorders Gastrointestinal symptoms

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DNA analysis of a pedigree with myotonic dystrophy in Songiang county Shanghai

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中国临床神经科学 2000年第Z1期8卷 88-页

作者： Hui-Min Zheng Hui-jun Xie She Qing Zhang Dept. Of Neurology Changhai Hospital The Second Military Medical University Shanghai200433 Dept. Of Neurology Changhai Hospital The Second Military Medical University Shanghai200433 Dept. Of Neurology Changhai Hospital The Second Military Medical University Shanghai200433

Objective To make the molecular analysis of a pedigree with myotonic dystrophy (DM) in Songjiang county Shanghai China, and to observe the connection between CTG trinucleotide repeat number and clinical features in a pedigreee with DM. Beckground Previous reports of CTG repeat numbers in a pedigree with DM was less in China. The study showed normal and expanded CTG repeat numbers in a Chinese patients with DM. Methods CTG trinucleotide repeat numbers were analyzed by using Long Expand TM Template PCR system. Results Four of eight clinical patients had expanded DM allele, the other four had no expanded CTG copies. Seven of eight suspicious DM cases had expanded CTG repeat numbers and were therefore genetically diagnosed DM, and an asymptomatic individual was dianosed a doubted DM patient by DNA analysis. High risk of DM in six of seven individuals was ruled out, and a clinical doubted DM individual was ascertained a normal person by molecular analysis. A positive correlation was found between early onset and expanded CTG repeat number in six parent(or grandparent)/child pairs, but in the pair No Ⅱ2/NoⅣ7 CTG repeat numbers were reduced from 3100 in the grandmother to 175 in her grandson and there was no anticipation phenomenon. Discussion it is possible that these patients represent a form of allelic heterogeneity for DM. Conclusion The measurement of CTG repeat number can help to ascertain the diagnosis of DM.

关键词： trinucleotide repeat molecular analysis myotonic dystrophy clinical features Chinese patients diagnosis of early onset form of

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