Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
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DOI：
10.1002/ana.22238
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发表时间：
2011-02
影响因子：
11.2
通讯作者：
Hanna, Michael G.
中科院分区：
文献类型：
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作者：
Tan, S. Veronica;Matthews, Emma;Barber, Melissa;Burge, James A.;Rajakulendran, Sanjeev;Fialho, Doreen;Sud, Richa;Haworth, Andrea;Koltzenburg, Martin;Hanna, Michael G.
为了提高基因型预测的准确性，并指导肌肉通道病患者的基因检测，我们应用并改进了专门的电生理运动试验参数。我们研究了56名基因确诊的患者和65名对照，使用针肌电图，长时间运动试验，在室温下，冷却后和复温后的短时间运动试验。在解释短期运动试验中的变化模式时，一致的振幅和面积递减比仅振幅测量更可靠。一致的振幅和面积模式I和模式II的衰减>20%分别对PMC和MC具有100%特异性。当室温和冷却后的减量<20%时，复温后重复短时间运动试验对先天性肌强直患者是有用的。面积测量和复温区分真正的温度敏感性从幅度减少，由于冷引起的肌纤维传导减慢。在短时间运动试验阴性的患者中，有症状的闭眼肌强直预示着钠通道肌强直而不是先天性肌强直。在先天性副肌强直患者中可以看到独特的“龙卷风状”神经性肌强直样放电。在长时间运动试验中，在Andersen-Tawil综合征患者中，运动前基线的面积减少比最大CMAP的振幅减少更敏感。可能的种族差异的规范性数据的长期运动试验主张使用适当的种族匹配的控制。一致的CMAP幅度和面积递减>20%允许更可靠地解释短运动试验，并有助于基于DNA的准确诊断。在运动试验阴性的患者中，特殊的临床特征有助于区分钠离子通道肌强直和氯离子通道肌强直。提出了一种改进的算法。
To improve the accuracy of genotype prediction and guide genetic testing in patients with muscle channelopathies we applied and refined specialised electrophysiological exercise test parameters. We studied 56 genetically confirmed patients and 65 controls using needle electromyography, the long exercise test, and short exercise tests at room temperature, after cooling, and rewarming. Concordant amplitude-and-area decrements were more reliable than amplitude-only measurements when interpreting patterns of change during the short exercise tests. Concordant amplitude-and-area pattern I and pattern II decrements of >20% were 100% specific for PMC and MC respectively. When decrements at room temperature and after cooling were <20%, a repeat short exercise test after rewarming was useful in patients with myotonia congenita. Area measurements and rewarming distinguished true temperature sensitivity from amplitude reduction due to cold-induced slowing of muscle fibre conduction. In patients with negative short exercise tests, symptomatic eye closure myotonia predicted sodium channel myotonia over myotonia congenita. Distinctive ‘tornado-shaped’ neuromyotonia-like discharges may be seen in patients with paramyotonia congenita. In the long exercise test, area decrements from pre-exercise baseline were more sensitive than amplitude decrements-from-maximum-CMAP in patients with Andersen-Tawil syndrome. Possible ethnic differences in the normative data of the long exercise test argue for the use of appropriate ethnically-matched controls. Concordant CMAP amplitude-and-area decrements of >20% allow more reliable interpretation of the short exercise tests and aid accurate DNA-based diagnosis. In patients with negative exercise tests, specific clinical features are helpful in differentiating sodium from chloride channel myotonia. A modified algorithm is suggested..
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影响因子：
11.2
作者：
Fournier, Emmanuel;Viala, Karine;Fontaine, Bertrand
通讯作者：
Fontaine, Bertrand
影响因子：
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作者：
Katz, JS;Wolfe, GI;Barohn, RJ
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3.4
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11.2
作者：
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通讯作者：
Fontaine, B
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3.4
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通讯作者：
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