Electromyography guides toward subgroups of mutations in muscle channelopathies
Electromyography guides toward subgroups of mutations in muscle channelopathies
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DOI：
10.1002/ana.20241
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发表时间：
2004-11-01
影响因子：
11.2
通讯作者：
Fontaine, B
中科院分区：
文献类型：
--
作者：
Fournier, E;Arzel, M;Fontaine, B
肌强直综合征和周期性麻痹是一种罕见的骨骼肌疾病，主要表现为肌肉僵硬或间歇性无力。家族性形式由编码骨骼肌电压门控离子通道的基因突变引起。运动是已知的触发，加重，或缓解症状。因此，运动可以作为肌电图的功能测试，以提高这些肌肉疾病的诊断。复合肌肉动作电位的异常变化可以使用不同的运动试验来揭示。我们报告的结果，一个包容性肌电图调查的一个大的人口与确定离子通道基因缺陷的患者。标准化的协议，包括短期和长期的运动试验应用于41名未受影响的对照组和51例患者的氯，钠，或钙通道突变已知引起肌强直或周期性麻痹。这些测试揭示了复合肌肉动作电位的显着变化，这通常与临床症状相匹配。结合对不同测试的反应，定义了与突变亚组相关的五种肌电图模式（I-V），可用于临床实践中作为分子诊断的指南。我们假设突变被隔离到不同的肌电图模式，根据潜在的病理生理机制。
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutations in genes coding for skeletal muscle voltage-gated ion channels. Exercise is known to trigger, aggravate, or relieve the symptoms. Therefore, exercise can be used as a functional test in electromyography to improve the diagnosis of these muscle disorders. Abnormal changes in the compound muscle action potential can be disclosed using different exercise tests. We report the outcome of an inclusive electromyographic survey of a large population of patients with identified ion channel gene defects. Standardized protocols comprising short and long exercise tests were applied on 41 unaffected control subjects and on 51 case patients with chloride, sodium, or calcium channel mutations known to cause myotonia or periodic paralysis. These tests disclosed significant changes of compound muscle action potential, which generally matched the clinical symptoms. Combining the responses to the different tests defined five electromyographic patterns (I-V) that correlated with subgroups of mutations and may be used in clinical practice as guides for molecular diagnosis. We hypothesize that mutations are segregated into the different electromyographic patterns according to the underlying pathophysiological mechanisms.