Abstract：
Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs).
SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers.
The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients.
SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required. Detailed personal and family history and clinical examination are essential, while neurophysiological tests should confirm myotonia and rule out alternative diagnosis. Moreover, specific electrodiagnostic studies are important to further define the phenotype of de novo cases and drive molecular analyses together with clinical data. Definite diagnosis is achieved through genetic testing, either with Sanger sequencing or multigene next-generation sequencing panel. In still unsolved patients, more advanced techniques, as exome-variant sequencing or whole-genome sequencing, may be considered in expert centers.
The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization of unsolved patients.
摘要：
■骨骼肌信道病（SMC）是一组异质性疾病，由骨骼离子通道的突变导致异常的肌肉兴奋性，导致延迟的肌肉松弛（肌强直），这是非营养不良性肌强直（NDMs）的特征，或膜瞬时失活，导致阵发性虚弱，典型的周期性瘫痪（PPs）。
■SMC包括先天性肌强直，先天性副肌强直,NDM中的钠通道肌强直，和超正常白血病，低钾血症，或PPs中的迟发性周期性瘫痪。当怀疑SMC时，需要一种结构化的诊断方法。详细的个人和家族史和临床检查是必不可少的，而神经生理学检查应确认肌强直并排除其他诊断。此外，具体的电诊断研究对于进一步确定从头病例的表型和驱动分子分析以及临床数据非常重要.明确的诊断是通过基因检测来实现的，使用Sanger测序或多基因下一代测序面板。在仍未解决的病人中，更先进的技术，作为外显子组变异测序或全基因组测序，可以在专家中心考虑。
■SMC的诊断方法仍然主要基于临床数据；此外，明确的诊断有时由于难以建立适当的基因型-表型相关性而变得复杂。最后,需要进一步的研究以允许未解决的患者的遗传特征。
■SMC包括先天性肌强直，先天性副肌强直,NDM中的钠通道肌强直，和超正常白血病，低钾血症，或PPs中的迟发性周期性瘫痪。当怀疑SMC时，需要一种结构化的诊断方法。详细的个人和家族史和临床检查是必不可少的，而神经生理学检查应确认肌强直并排除其他诊断。此外，具体的电诊断研究对于进一步确定从头病例的表型和驱动分子分析以及临床数据非常重要.明确的诊断是通过基因检测来实现的，使用Sanger测序或多基因下一代测序面板。在仍未解决的病人中，更先进的技术，作为外显子组变异测序或全基因组测序，可以在专家中心考虑。
■SMC的诊断方法仍然主要基于临床数据；此外，明确的诊断有时由于难以建立适当的基因型-表型相关性而变得复杂。最后,需要进一步的研究以允许未解决的患者的遗传特征。
