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Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review

机译：SCN4A基因突变引起的周期性麻痹和先天性肌强直重叠重叠两个家族报道及文献复习

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Objective: To verify the diagnosis of channelopathies in two families and explore the mechanism of the overlap between periodic paralysis (PP) and paramyotonia congenita (PMC). Methods: We have studied two cases with overlapping symptoms of episodic weakness and stiffness in our clinical center using a series of assessment including detailed medical history, careful physical examination, laboratory analyses, muscle biopsy, electrophysiological evaluation, and genetic analysis. Results: The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A . The second proband and part of his family with the overlap of PMC and hypokalemic periodic paralysis type 2 (HypoPP2) has been identified as c.4343G > A (R1448H) substitution of the gene SCN4A . In addition, one member of the second family with overlapping symptoms has been identified as a novel mutation c.2111C > T without the mutation c.4343G > A. Conclusions: SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2). The clinical symptoms of episodic weakness and stiffness could happen at a different time or temperature. Based on diagnosis assessments such as medical history and muscle biopsy, further evaluations on long-time exercise test, genetic analysis, and patch clamp electrophysiology test need to be done in order to verify the specific subtype of channelopathies. Furthermore, the improvement of one member in the pregnancy period can be used as a reference for the other female in the child-bearing period with T704M.
机译：目的：验证两个家族的通道病诊断，探讨周期性麻痹（PP）和先天性肌强直（PMC）重叠的机制。方法：我们通过一系列评估，包括详细的病史，仔细的体格检查，实验室分析，肌肉活检，电生理评估和基因分析，对我们的临床中心研究了两例具有反复发作的虚弱和僵硬症状的病例。结果：第一个先证者及其家人中存在PMC和高钾性周期性麻痹（HyperPP）重叠的问题已被确认为基因 SCN4A的c.2111C> T（T704M）替代。第二个先证者及其家人与PMC和2型低钾性周期性麻痹（HypoPP2）重叠，已被鉴定为基因 SCN4A的c.4343G> A（R1448H）替代。此外，第二个家族中有一个重叠症状的成员被鉴定为一种新的突变c.2111C> T，而没有突变c.4343G>A。结论： SCN4A基因突变可引起PMC和PP的重叠（尤其是HypoPP2）。发作性虚弱和僵硬的临床症状可能在不同的时间或温度下发生。基于病史和肌肉活检等诊断评估，需要对长期运动测试，遗传分析和膜片钳电生理测试进行进一步评估，以验证特定的通道病亚型。此外，一个妊娠期成员的改善可以作为T704M育龄期另一位女性的参考。

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