Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy
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DOI：
10.1016/j.nrl.2018.01.001
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发表时间：
2019-09-01
期刊：
影响因子：
3.9
通讯作者：
Vilchez Padilla, J. J.
中科院分区：
文献类型：
--
作者：
Nascimento Osorio, A.;Medina Cantillo, J.;Vilchez Padilla, J. J.
简介：杜氏肌营养不良症（DMD）是儿童中最常见的肌病，全球患病率约为每10，000例男性新生儿0.5例。其特征是在幼儿期出现进行性肌肉无力，随后出现肌肉骨骼、呼吸和心脏并发症，导致残疾、依赖和过早死亡。目前，DMD主要采用多学科对症治疗，在疾病进展方面取得了良好的效果。因此，至关重要的是要建立明确的，最新的指导方针，使早期发现，适当的治疗，并监测可能complications.Development：我们进行了文献检索的主要生物医学数据库的文章发表在过去10年中，以获得一个概述的问题，目前的指导方针，并确定相关问题尚未达成共识。证据的程度和所获得的信息的建议水平进行了分类，并根据美国神经病学学会的标准排序。结论：DMD管理应是多学科的，并适应于患者的个人资料和临床进展的阶段。除皮质激素治疗外，还应提供针对胃肠、呼吸、心脏和骨科问题的治疗以及物理治疗，以改善患者的生活质量。遗传学研究在疾病管理中发挥着关键作用，无论是在检测病例和潜在携带者，还是在描述所涉及的突变和开发新疗法方面。(C)2018年西班牙神经病学学会。由Elsevier Espana出版，S.L.U.
Introduction: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multi-disciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications.Development: We performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology.Conclusions: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastro-intestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies. (C) 2018 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L.U.