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Motor dysfunction of the gut in Duchenne muscular dystrophy: A review
Neurogastroenterology & Motility ( IF 3.5 ) Pub Date : 2024-04-23 , DOI: 10.1111/nmo.14804
Fazal Subhan 1 , Maria Grazia Zizzo 1, 2 , Rosa Serio 1
Affiliation  

BackgroundDuchenne's muscular dystrophy (DMD) is a severe type of hereditary, neuromuscular disorder caused by a mutation in the dystrophin gene resulting in the absence or production of truncated dystrophin protein. Conventionally, clinical descriptions of the disorder focus principally on striated muscle defects; however, DMD manifestations involving gastrointestinal (GI) smooth muscle have been reported, even if not rigorously studied.PurposeThe objective of the present review is to offer a comprehensive perspective on the existing knowledge concerning GI manifestations in DMD, focusing the attention on evidence in DMD patients and mdx mice. This includes an assessment of symptomatology, etiological pathways, and potential corrective approaches. This paper could provide helpful information about DMD gastrointestinal implications that could serve as a valuable orientation for prospective research endeavors in this field. This manuscript emphasizes the effectiveness of mdx mice, a DMD animal model, in unraveling mechanistic insights and exploring the pathological alterations in the GI tract. The gastrointestinal consequences evident in patients with DMD and the mdx mice models are a significant area of focus for researchers. The exploration of this area in depth could facilitate the development of more efficient therapeutic approaches and improve the well‐being of individuals impacted by the condition.

中文翻译:

杜氏肌营养不良症肠道运动功能障碍:综述

背景杜兴氏肌营养不良症 (DMD) 是一种严重的遗传性神经肌肉疾病,由肌营养不良蛋白基因突变导致截短的肌营养不良蛋白缺失或产生。传统上,该疾病的临床描述主要集中在横纹肌缺陷上。然而,即使没有经过严格研究,也有涉及胃肠道(GI)平滑肌的 DMD 表现的报道。目的本综述的目的是对 DMD 胃肠道表现的现有知识提供全面的视角,重点关注 DMD 的证据患者和 mdx 小鼠。这包括对症状、病因途径和潜在纠正方法的评估。本文可以提供有关 DMD 胃肠道影响的有用信息,为该领域的前瞻性研究工作提供有价值的方向。该手稿强调了 mdx 小鼠(一种 DMD 动物模型)在阐明机制见解和探索胃肠道病理变化方面的有效性。 DMD 患者和 mdx 小鼠模型中明显的胃肠道后果是研究人员关注的一个重要领域。对该领域的深入探索可以促进更有效的治疗方法的开发,并改善受该疾病影响的个人的福祉。
更新日期:2024-04-23
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