Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
Driscoll Children's Hospital, Corpus Christi, TX, United States.
Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.
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.
在过去的十年中，人们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，从组织学上定义的每种先天性肌病与遗传原因之间的关系很复杂。许多先天性肌病是由于一个以上基因的突变引起的，而同一基因的突变也可能导致不同的肌肉病理。先天性肌病国际标准护理委员会进行了文献回顾，并咨询了该领域的一组专家，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。共识声明经过两轮在线调查和为期三天的研讨会进行了完善。该共识声明为评估婴儿或儿童出现张力减退和无力的医生提供了指导。我们总结了最提示先天性肌病的临床特征、主要鉴别诊断以及临床检查、检查、肌肉病理学和肌肉影像学的特征，这些特征提示特定的遗传诊断，以帮助确定已知基因的遗传检测优先级。随着下一代测序越来越多地作为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具有致病性。
