中风与神经疾病杂志2025，Vol.42Issue(5)：401-408,8.DOI:10.19845/j.cnki.zfysjjbzz.2025.0077
遗传性骨骼肌离子通道病诊断和治疗进展
Progress on the diagnosis and treatment of hereditary skeletal muscle ion channelopathies
摘要
Abstract
Hereditary skeletal muscle ion channelopathies are a group of heterogeneous hereditary diseases caused by mutations in the skeletal muscle ion channel genes.According to clinical manifestations,hereditary skeletal muscle channelopathies are classified into two major categories:non-dystrophic myotonia and periodic paralysis.Non-dystrophic myotonia includes myotonia congenita,paramyotonia congenita,and sodium channel myotonia.Periodic paralysis in-cludes hypokalemic type,normal serum potassium type,hyperkalemic type,and Andersen-Tawil syndrome.Because of an overlap between non-dystrophic myotonia and periodic paralysis in clinical phenotype and molecular mechanism,a few patients can simultaneously exhibit the phenotypes of both conditions,indicating that hereditary skeletal muscle channelo-pathies are a continuity in the clinical spectrum.This article reviews the classifications,clinical manifestations,diagnos-tic criteria,genetic pathological types,pathogenic mechanisms,and treatment approaches and progress of hereditary skel-etal muscle ion channelopathies.关键词
遗传性骨骼肌通道病/非营养不良性肌强直/周期性麻痹Key words
Hereditary skeletal muscle channelopathy/Non-dystrophic myotonia/Periodic paralysis分类
临床医学引用本文复制引用
柯青..遗传性骨骼肌离子通道病诊断和治疗进展[J].中风与神经疾病杂志,2025,42(5):401-408,8.基金项目
江西省创新领军人才(jxsp2023102164) （jxsp2023102164）
