Approach to the diagnosis of congenital myopathies.
Approach to the diagnosis of congenital myopathies.
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诊断先天性肌病的方法。
DOI：
10.1016/j.nmd.2013.11.003
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发表时间：
2014-02
期刊：
影响因子：
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通讯作者：
International Standard of Care Committee for Congenital Myopathies
中科院分区：
文献类型：
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作者：
North KN;Wang CH;Clarke N;Jungbluth H;Vainzof M;Dowling JJ;Amburgey K;Quijano-Roy S;Beggs AH;Sewry C;Laing NG;Bönnemann CG;International Standard of Care Committee for Congenital Myopathies
在过去的十年中，在确定大多数先天性肌病亚型的遗传基础方面取得了重大进展。然而，每一种先天性肌病之间的关系，定义在组织学的基础上，和遗传原因是复杂的。许多先天性肌病是由于一个以上基因的突变，同一基因的突变可能导致不同的肌肉病理。先天性肌病国际护理标准委员会进行了文献综述，并咨询了该领域的专家组，以总结（1）所有形式的先天性肌病共有的关键特征和（2）有助于区分不同遗传亚型的具体特征。通过两轮在线调查和为期三天的研讨会，对共识声明进行了完善。本共识声明为医生评估肌张力减退和虚弱的婴儿或儿童提供了指南。我们总结了最提示先天性肌病的临床特征，主要的鉴别诊断以及临床检查，调查，肌肉病理学和肌肉成像的特征，这些特征提示特定的遗传诊断，以帮助优先考虑已知基因的基因检测。随着下一代测序越来越多地用作临床实践中的诊断工具，这些指南将有助于确定哪些序列变异可能是致病性的。
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.