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杜氏肌营养不良症:临床实践更新。

Duchenne Muscular Dystrophy: A Practice Update.

机构信息

Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

出版信息

Indian J Pediatr. 2018 Apr;85(4):276-281. doi: 10.1007/s12098-017-2397-y. Epub 2017 Jun 27.

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications. Consensus based international recommendation for management of DMD have been published in the year 2010, recognizing DMD as a multi-systemic and progressive disease. The proper management of a boy with DMD can improve ambulation, independence, quality of life and delay disease - related complications. A lot can be done to comfort affected children and their care givers even in a resource limited setting. This review discusses these options and also the current understanding of the disease.

摘要

杜氏肌营养不良症(DMD)是一种 X 连锁隐性疾病,由抗肌萎缩蛋白的缺乏或缺陷合成引起。DMD 是最常见的肌肉营养不良症,发病率约为每 5000 名活产男婴中有 1 例。尽管主要导致进行性肌肉无力,但它也会影响其他各种器官。由于抗肌萎缩蛋白在这些器官中的表达,心脏、大脑和平滑肌通常也会受到影响。DMD 的管理需要多学科联系、预期管理和预防并发症。2010 年发表了针对 DMD 管理的基于共识的国际建议,将 DMD 确认为一种多系统和进行性疾病。对 DMD 男孩的适当管理可以改善运动能力、独立性、生活质量并延迟疾病相关并发症。即使在资源有限的情况下,也可以采取很多措施来安慰受影响的儿童及其护理人员。这篇综述讨论了这些选择以及对疾病的当前理解。

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