Centre for Neuromuscular Disorders, Queen Square UCL Institute of Neurology, London, United Kingdom.
University College London Hospital, London, United Kingdom.
Handb Clin Neurol. 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6.
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.
肌肉通道病涵盖了广泛的主要发作性疾病，其特征是肌肉僵硬和无力。以僵硬为主要特征的肌强直症包括先天性肌强直、先天性副肌强直和钠离子通道肌强直症。周期性瘫痪疾病包括低钾周期性瘫痪、高钾周期性瘫痪和 Andersen-Tawil 综合征。临床病史是关键，通过对一组已知基因的下一代基因测序来确认诊断，但也可以通过神经生理学研究和 MRI 来补充。随着基因检测的扩展，所看到的表型谱也在扩大，包括儿科表现和先天性肌病。这些疾病的管理需要多学科的方法，当患者需要麻醉或怀孕时，需要额外的支持。患有 Andersen-Tawil 综合征的患者还需要心脏方面的帮助。诊断很重要，因为所有这些疾病都有对症治疗，但需要根据患者的基因和变异进行调整。
