PDF(Pubmed)
Abstract：
OBJECTIVE: This study aimed to determine the usefulness of electrophysiological exercise tests. The significance of slightly abnormal exercise tests was also examined.
METHODS: We identified all the patients who had undergone exercise testing between February 2007 to June 2022 in Tampere University Hospital, Finland. Their medical records after diagnostic workup and exercise test reports were reviewed. A binary logistic regression was performed to evaluate the association between positive test result in short exercise test, long exercise test, or short exercise test with cooling and genetically confirmed skeletal muscle channelopathy or myotonic disorder.
RESULTS: We identified 256 patients. 27 patients were diagnosed with nondystrophic myotonia, periodic paralysis, myotonic dystrophy type 1, myotonic dystrophy type 2, or other specified myopathy. 14 patients were suspected to have a skeletal muscle channelopathy, but pathogenic variants could not be identified. The remaining 215 patients were diagnosed with other conditions than skeletal muscle channelopathy or myotonic disorder. The combined sensitivity of exercise tests was 59.3% and specificity 99.1%. Abnormal exercise test result was associated with increased risk of skeletal muscle channelopathy or myotonic disorder (OR 164.3, 95% CI 28.3-954.6, p < 0.001).
CONCLUSIONS: Electrophysiological exercise test is not optimal to exclude skeletal muscle channelopathy. It may be useful if a skeletal muscle channelopathy is suspected and genetic testing is negative or indeterminate and further evidence is required. Slightly abnormal exercise test results are possible in various conditions and result from different aetiologies. There is a demand for neurophysiological studies with higher sensitivity to detect skeletal muscle channelopathies.
METHODS: We identified all the patients who had undergone exercise testing between February 2007 to June 2022 in Tampere University Hospital, Finland. Their medical records after diagnostic workup and exercise test reports were reviewed. A binary logistic regression was performed to evaluate the association between positive test result in short exercise test, long exercise test, or short exercise test with cooling and genetically confirmed skeletal muscle channelopathy or myotonic disorder.
RESULTS: We identified 256 patients. 27 patients were diagnosed with nondystrophic myotonia, periodic paralysis, myotonic dystrophy type 1, myotonic dystrophy type 2, or other specified myopathy. 14 patients were suspected to have a skeletal muscle channelopathy, but pathogenic variants could not be identified. The remaining 215 patients were diagnosed with other conditions than skeletal muscle channelopathy or myotonic disorder. The combined sensitivity of exercise tests was 59.3% and specificity 99.1%. Abnormal exercise test result was associated with increased risk of skeletal muscle channelopathy or myotonic disorder (OR 164.3, 95% CI 28.3-954.6, p < 0.001).
CONCLUSIONS: Electrophysiological exercise test is not optimal to exclude skeletal muscle channelopathy. It may be useful if a skeletal muscle channelopathy is suspected and genetic testing is negative or indeterminate and further evidence is required. Slightly abnormal exercise test results are possible in various conditions and result from different aetiologies. There is a demand for neurophysiological studies with higher sensitivity to detect skeletal muscle channelopathies.
摘要：
目的：本研究旨在确定电生理运动测试的有用性。还检查了轻微异常运动测试的意义。
方法：我们确定了2007年2月至2022年6月在坦佩雷大学医院接受运动测试的所有患者，芬兰。对诊断检查后的病历和运动测试报告进行了审查。进行二元逻辑回归以评估短期运动测试中阳性测试结果之间的关联，长时间的运动测试，或短期运动试验与冷却和遗传证实的骨骼肌通道病或肌强直性障碍。
结果：我们确定了256例患者。27例患者被诊断为非营养不良性肌强直，周期性瘫痪,强直性肌营养不良1型，强直性肌营养不良2型或其他特定肌病。14名患者被怀疑患有骨骼肌通道病，但致病变异无法识别。其余215例患者被诊断为骨骼肌通道病或强直性疾病以外的其他疾病。运动试验的联合敏感性为59.3％，特异性为99.1％。异常运动试验结果与骨骼肌通道病或肌强直障碍的风险增加相关(OR164.3,95%CI28.3-954.6,p<0.001)。
结论：电生理运动试验不是排除骨骼肌通道病的最佳方法。如果怀疑是骨骼肌通道病，并且基因检测是阴性或不确定的，并且需要进一步的证据，则可能有用。运动测试结果在各种情况下都可能有轻微异常，并且是由不同的病因引起的。需要具有更高灵敏度的神经生理学研究来检测骨骼肌信道病。
方法：我们确定了2007年2月至2022年6月在坦佩雷大学医院接受运动测试的所有患者，芬兰。对诊断检查后的病历和运动测试报告进行了审查。进行二元逻辑回归以评估短期运动测试中阳性测试结果之间的关联，长时间的运动测试，或短期运动试验与冷却和遗传证实的骨骼肌通道病或肌强直性障碍。
结果：我们确定了256例患者。27例患者被诊断为非营养不良性肌强直，周期性瘫痪,强直性肌营养不良1型，强直性肌营养不良2型或其他特定肌病。14名患者被怀疑患有骨骼肌通道病，但致病变异无法识别。其余215例患者被诊断为骨骼肌通道病或强直性疾病以外的其他疾病。运动试验的联合敏感性为59.3％，特异性为99.1％。异常运动试验结果与骨骼肌通道病或肌强直障碍的风险增加相关(OR164.3,95%CI28.3-954.6,p<0.001)。
结论：电生理运动试验不是排除骨骼肌通道病的最佳方法。如果怀疑是骨骼肌通道病，并且基因检测是阴性或不确定的，并且需要进一步的证据，则可能有用。运动测试结果在各种情况下都可能有轻微异常，并且是由不同的病因引起的。需要具有更高灵敏度的神经生理学研究来检测骨骼肌信道病。
