• Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, and Jing Zhang.
• Department of prenatal diagnostic center, Shijiazhuang gynaecology and obstertrics Hospital, Key Laboratory of Maternal and Fetal Medicine of Hebei Province, Hebei, Shijiazhuang, P.R. China.
• Medicine (Baltimore). 2022 Jul 22; 101 (29): e29591e29591.

BackgroundThis study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype.MethodsCLCN1 and SCN4A genes in patients with clinical features and muscle pathology indicative of NDM were sequenced. Furthermore, KCNE3 and CACNA1S genes were assessed in patients with wild-type CLCN1 and SCN4A.ResultsPatients may have accompanying atypical myopathy as well as muscle hypertrophy, secondary dystonia, and joint contracture as determined by needle electromyography. All the study participants were administered mexiletine in combination with carbamazepine and showed significant improvements in myotonia symptoms in response to this therapy. CLCN1 gene mutation was detected in 8 cases diagnosed with myotonia congenital using gene screening. The detected mutations included 5 missense, 2 nonsense, 1 deletion, and 2 insertions. Further gene analysis showed 4 mutations in the SCN4A gene in patients diagnosed with paramyotonia congenita.ConclusionsMyotonia congenita and paramyotonia congenita are the predominant forms of NDM in China. NDM may be best diagnosed using genetic analysis in associated with clinical features.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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