Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.
Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.
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DOI：
10.4103/1817-1745.117848
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发表时间：
2013-05
影响因子：
0.5
通讯作者：
Hussain N
中科院分区：
文献类型：
--
作者：
Saleem R;Setty G;Khan A;Farrell D;Hussain N
骨骼肌钠离子通道病（SMSC）包括高钾性周期性麻痹（HyperPP）、先天性副肌强直（PC）和钠离子通道肌强直，由钠离子通道基因（SCN 4A）突变引起，肌纤维兴奋性改变，可表现为骨骼肌无力、麻痹和肌强直发作。我们报告一个十几岁的男孩，谁提出的功能HyperPP，PC，先天性肌强直，钠通道肌强直。他的肌电图（EMG）显示肌病变化、肌强直和Fournier EMG I型，并提出了诊断挑战。遗传学分析表明SCN 4A基因存在Thr704Met突变。虽然对于典型的临床表型，肌电图模式可以用于指导基因检测，但非典型表型可能会造成诊断困境。处理儿童神经肌肉疾病的临床医生需要了解SMSC的异常临床表现，以便进行集中的基因检测。
Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle weakness, paralysis, and myotonia. We report a teenage boy, who presented with features of HyperPP, PC, myotonia congenita, and sodium channel myotonia. His electromyography (EMG) revealed myopathic changes, myotonia, and Fournier EMG pattern I, and posed a diagnostic challenge. Genetic analysis showed Thr704Met mutation in SCN4A gene. While with typical clinical phenotypes, the electromyographic patterns can be used to direct genetic testing, atypical phenotypes may pose diagnostic dilemmas. Clinicians dealing with neuromuscular disorders in children need to be aware of the unusual clinical presentations of SMSC, so that focused genetic testing can be carried out.