The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.

ABSTRACT:

Introduction

Non-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.

Methods

We reviewed the clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, genetic analysis, treatment, and follow-up of 20 patients (from 18 families) with NDM.

Results

Cases included myotonia congenita (MC, 17/20) and paramyotonia congenita (PMC, 3/20). Muscle stiffness and hypertrophy, grip and percussion myotonia, and the warm-up phenomenon were frequently observed in MC and PMC patients. Facial stiffness, eye closure myotonia, and cold sensitivity were more common in PMC p

SUBMITTER: Wang Q 

PROVIDER: S-EPMC8957821 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature