Abstract：
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and Andersen-Tawil syndrome. Clinical history is key, and diagnosis is confirmed by next-generation genetic sequencing of a panel of known genes but can also be supplemented by neurophysiology studies and MRI. As genetic testing expands, so have the spectrum of phenotypes seen including pediatric presentations and congenital myopathies. Management of these conditions requires a multidisciplinary approach with extra support needed when patients require anesthetics or when pregnant. Patients with Andersen-Tawil syndrome will also need cardiac input. Diagnosis is important as symptomatic treatment is available for all of these conditions but need to be tailored to the gene and variant of the patient.
摘要：
肌肉沟通病包括广泛的主要是以肌肉僵硬和虚弱为特征的偶发性疾病。肌强直性条件，主要以刚度为特征，包括先天性肌强直,先天性副肌强直,和钠通道肌强直。周期性瘫痪包括低钾性周期性瘫痪，高钾血症周期性麻痹,和Andersen-Tawil综合征.临床病史是关键,和诊断通过一组已知基因的下一代基因测序得到证实，但也可以通过神经生理学研究和MRI进行补充。随着基因检测的扩展，包括儿科表现和先天性肌病在内的表型谱也是如此。这些疾病的管理需要多学科方法，当患者需要麻醉药或怀孕时需要额外的支持。Andersen-Tawil综合征患者也需要心脏输入。诊断很重要，因为所有这些疾病都可以进行对症治疗，但需要根据患者的基因和变异进行调整。
