University of Oxford, UK and Oxford University Hospitals, Oxford, UK.
Department of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.
J Neurol. 2022 Jun;269(6):3372-3384. doi: 10.1007/s00415-022-10986-3. Epub 2022 Feb 10.
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised autoimmune or genetic and neurophysiological basis. We reviewed the literature from the last 20 years assessing the utility of various neurophysiological, immunological, provocative and genetic tests in MG and CMS. Diagnostic sensitivity of repetitive nerve stimulation test ranges between 14 and 94% and specificity between 73 and 100%; sensitivity of single-fibre EMG (SFEMG) test ranges between 64 and 100% and specificity between 22 and 100%; anti-acetylcholine receptor (AChR) antibody sensitivity ranges from 13 to 97% and specificity ranges from 95 to 100%. Overall, SFEMG has the highest sensitivity while positive anti-AChR antibodies have the highest specificity. Newer testing strategies that have been investigated over the last couple of decades include ocular vestibular-evoked myogenic potentials, otoacoustic emissions and disease-specific circulating miRNAs in serum for autoimmune myasthenia, as well as next-generation sequencing for genetic testing of CMS. While there has been significant progress in developing newer testing strategies for diagnosing MG and CMS over the last couple of decades, more research is needed to assess the utility of these newer tools regarding their sensitivity and specificity.
重症肌无力（MG）和先天性肌无力综合征（CMS）是一组以明确的自身免疫或遗传及神经生理学基础为特征的疾病。我们回顾了过去 20 年的文献，评估了各种神经生理学、免疫学、激发和遗传测试在 MG 和 CMS 中的应用价值。重复神经刺激测试的诊断灵敏度在 14%至 94%之间，特异性在 73%至 100%之间；单纤维肌电图（SFEMG）测试的灵敏度在 64%至 100%之间，特异性在 22%至 100%之间；抗乙酰胆碱受体（AChR）抗体的灵敏度范围为 13%至 97%，特异性范围为 95%至 100%。总的来说，SFEMG 的灵敏度最高，而阳性抗 AChR 抗体的特异性最高。过去几十年中，已经研究了一些新的检测策略，包括眼动前庭诱发肌源性电位、耳声发射和血清中针对自身免疫性重症肌无力的疾病特异性循环 miRNA，以及 CMS 的下一代测序基因检测。尽管在过去几十年中，MG 和 CMS 的诊断检测策略有了显著的发展，但仍需要更多的研究来评估这些新工具的敏感性和特异性。
