Progress on the diagnosis and treatment of hereditary skeletal muscle ion channelopathies
10.19845/j.cnki.zfysjjbzz.2025.0077
- VernacularTitle:遗传性骨骼肌离子通道病诊断和治疗进展
- Author:
Qing KE
1
Author Information
1. Department of Neurology， The First Affiliated Hospital of Zhejiang University School of Medicine， Hangzhou 310003， China
- Publication Type:Journal Article
- Keywords:
Hereditary skeletal muscle channelopathy;
Non-dystrophic myotonia;
Periodic paralysis
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(5):401-408
- CountryChina
- Language:Chinese
-
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 includes 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 channelopathies are a continuity in the clinical spectrum. This article reviews the classifications， clinical manifestations， diagnostic criteria， genetic pathological types， pathogenic mechanisms， and treatment approaches and progress of hereditary skeletal muscle ion channelopathies.
- Full text:2025071615564772162遗传性骨骼肌离子通道病诊断和治疗进展.pdf
