Bellini Massimo, Biagi Sonia, Stasi Cristina, Costa Francesco, Mumolo Maria Gloria, Ricchiuti Angelo, Marchi Santino
Gastroenterology Unit, Department of Internal Medicine, University of Pisa, Via Roma 67, 56100 Pisa, Italy.
World J Gastroenterol. 2006 Mar 28;12(12):1821-8. doi: 10.3748/wjg.v12.i12.1821.
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 musculo-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, manometry, 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, anti-dyspeptic 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.
强直性肌营养不良（MD）的特征为肌强直现象和进行性肌无力。胃肠道受累很常见，可发生于任何水平。此前，临床表现被归因于平滑肌损伤导致的运动障碍，但关于改变的组织学证据一直很少且相互矛盾。也有人提出存在神经因素。在上消化道，吞咽困难、烧心、反流和消化不良是最常见的症状，而在下消化道，腹痛、腹胀和排便习惯改变则经常被报告。消化症状可能是营养不良性疾病的首发症状，可能先于肌肉骨骼特征出现。胃肠道功能损害有时可能非常缓慢，以至于患者几乎没有意识到症状就已适应。在这种情况下，常规的内镜和超声检查并不足够，需要采用针对性技术（胃电图、测压法、肌电图、功能超声、闪烁扫描等）。骨骼肌受累程度与胃肠道紊乱的存在及严重程度之间相关性较低，而与骨骼肌疾病的病程呈正相关。推荐用于治疗胃肠道症状的药物，如促动力药、抗消化不良药和泻药，主要旨在纠正运动障碍。MD中的胃肠道受累仍然是一种复杂且引人关注的情况，因为许多重要问题仍未解决。需要进一步开展侧重于遗传方面、早期诊断技术以及新治疗策略开发的研究，以改善我们对MD胃肠道表现的管理。
