Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing, including myotonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, mitochondrial myopathies, dystrophinopathies, and oculopharyngodistal myopathy. Initial investigation in the remaining patients is generally a comprehensive gene panel by next-generation sequencing. Broad panels have a higher diagnostic yield and can be cost-effective. Due to extensive phenotypic overlap and treatment implications, genes responsible for congenital myasthenic syndromes should be included when evaluating myopathy patients. For patients whose initial genetic testing is negative or inconclusive, phenotypic re-evaluation is warranted, along with consideration of genes and variants not included initially, as well as their acquired mimickers.

中文翻译：

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肌肉和神经肌肉接头疾病基因检测指南

尽管最近在对遗传性肌肉和神经肌肉接头疾病的理解方面取得了进展，并且出现了广泛的基因检测，但患者在有时可治疗的疾病的诊断方面仍然面临延误。这些指南概述了在此类疾病中进行基因检测的方法。最初，评估患者的表型以识别需要定向测试的肌病，包括强直性肌营养不良、面肩肱型肌营养不良、眼咽肌营养不良、线粒体肌病、肌营养不良症和眼咽远端肌病。对其余患者的初步调查通常是通过下一代测序进行综合基因组。广泛的面板具有更高的诊断率，并且具有成本效益。由于广泛的表型重叠和治疗影响，在评估肌病患者时，应包括导致先天性肌无力综合征的基因。对于初始基因检测为阴性或不确定的患者，表型重新评估是必要的，同时考虑最初未包括的基因和变异，以及他们获得的模仿者。