Diagnostic challenges in myasthenia gravis: a clinical approach

R. De Meel
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Abstract

The development of antibody tests and neurophysiological techniques have aided in confirming the diagnosis of myasthenia gravis (MG) over the years. However, there still remains an unmet diagnostic need in the subgroup of MG patients with weakness restricted to ocular muscles (OMG) as routine diagnostic tests are less sensitive in this group: around 50% of these patients have no positive antibody test and around 71% have no significant decrement with repetitive stimulation EMG. Moreover, virtually all disorders that can cause a pupil-sparing ptosis or diplopia have been reported to be confused with OMG. Among the most mentioned mimicks for OMG are (concomitant) Graves ophtalmopathy, cranial nerve palsies, ocular tendinomuscular deficits (such as levator dehiscence), myopathy, demyelinating disease and stroke. Diagnostic delay and confusion of OMG with mimicking disorders might lead to a worse prognosis due to a possible increased risk of generalization of disease and the need of emergency treatments. A careful clinical follow-up of patients with suspected OMG by systematically assessing changes in ocular weakness patterns between visits can aid in confirming the diagnosis. In addition, the ice pack test can be a diagnostic aid in cases of both evident ptosis as ophtalmoparesis. In the foreseeable future, cell-based assays (CBA) might aid in the diagnostic confirmation of OMG. There is a need of studies that investigates the yield of new and not-routinely used diagnostic tests in suspected OMG with negative antibody and inconclusive EMG and SF-EMG, such as the repetitive ocular vestibular evoked myogenic potentials (RoVEMP) test and CBA. Lastly, the effect of early immunosuppressive treatment should be further investigated in OMG.
重症肌无力的诊断挑战:临床方法
多年来,抗体测试和神经生理学技术的发展有助于确认重症肌无力(MG)的诊断。然而,由于常规诊断测试在该组中的敏感性较低,MG患者局限于眼肌(OMG)的诊断需求仍未得到满足:约50%的患者没有抗体测试阳性,约71%的患者重复刺激肌电图没有明显下降。此外,据报道,几乎所有可导致瞳孔保留性上睑下垂或复视的疾病都与OMG相混淆。最常被提及的OMG的相似症状包括(伴随的)Graves眼病、脑神经麻痹、眼肌腱肌肉缺陷(如提肌裂)、肌病、脱髓鞘疾病和中风。由于可能增加疾病普遍化的风险和需要紧急治疗,OMG与模仿障碍的诊断延迟和混淆可能导致预后较差。对疑似OMG的患者进行仔细的临床随访,系统地评估就诊期间眼无力模式的变化,有助于确诊。此外,冰敷试验可作为诊断辅助,在情况下,明显的上睑下垂和眼压。在可预见的将来,基于细胞的检测(CBA)可能有助于确诊OMG。对于抗体阴性且肌电图和sf肌电图不确定的疑似OMG患者,如重复性眼前庭诱发肌电位(RoVEMP)试验和CBA,需要进行新的和不常规使用的诊断试验的研究。最后,早期免疫抑制治疗对OMG的影响有待进一步研究。
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