University Hospitals Birmingham, Birmingham, UK.
Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK.
Eye (Lond). 2024 Aug;38(12):2422-2436. doi: 10.1038/s41433-024-03133-x. Epub 2024 May 24.
Myasthenia gravis (MG) is one of the most well characterised autoimmune disorders affecting the neuromuscular junction with autoantibodies targeting the acetylcholine receptor (AChR) complex. The vast majority of patients present with ocular symptoms including double vision and ptosis, but may progress on to develop generalised fatiguable muscle weakness. Severe involvement of the bulbar muscles can lead to dysphagia, dysarthria and breathing difficulties which can progress to myasthenic crisis needing ventilatory support. Given the predominant ocular onset of the disease, it is important that ophthalmologists are aware of the differential diagnosis, investigations and management including evolving therapies. When the disease remains localised to the extraocular muscles (ocular MG) IgG1 and IgG3 antibodies against the AChR (including clustered AChR) are present in nearly 50% of patients. In generalised MG this is seen in nearly 90% patients. Other antibodies include those against muscle specific tyrosine kinase (MuSK) and lipoprotein receptor related protein 4 (LRP4). Even though decremental response on repetitive nerve stimulation is the most well recognised neurophysiological abnormality, single fibre electromyogram (SFEMG) in experienced hands is the most sensitive test which helps in the diagnosis. Initial treatment should be using cholinesterase inhibitors and then proceeding to immunosuppression using corticosteroids and steroid sparing drugs. Patients requiring bulbar muscle support may need rescue therapies including plasma exchange and intravenous immunoglobulin (IVIg). Newer therapeutic targets include those against the B lymphocytes, complement system, neonatal Fc receptors (FcRn) and various other elements of the immune system.
重症肌无力(MG)是最典型的自身免疫性疾病之一,影响神经肌肉接头,自身抗体针对乙酰胆碱受体(AChR)复合物。绝大多数患者出现眼部症状,包括复视和上睑下垂,但可能进展为全身性易疲劳性肌肉无力。球肌严重受累可导致吞咽困难、构音障碍和呼吸困难,进而发展为需要通气支持的肌无力危象。鉴于疾病主要以眼部为首发,眼科医生了解鉴别诊断、检查和管理(包括不断发展的治疗方法)非常重要。当疾病局限于眼外肌(眼肌型 MG)时,近 50%的患者存在针对 AChR 的 IgG1 和 IgG3 抗体(包括聚集的 AChR)。在全身性 MG 中,近 90%的患者可见到这种情况。其他抗体包括针对肌肉特异性酪氨酸激酶(MuSK)和脂蛋白受体相关蛋白 4(LRP4)的抗体。尽管重复神经刺激的递减反应是最公认的神经生理学异常,但在有经验的医生手中,单纤维肌电图(SFEMG)是最敏感的检查方法,有助于诊断。初始治疗应使用胆碱酯酶抑制剂,然后使用皮质类固醇和类固醇节约药物进行免疫抑制。需要球肌支持的患者可能需要挽救治疗,包括血浆置换和静脉注射免疫球蛋白(IVIg)。新的治疗靶点包括针对 B 淋巴细胞、补体系统、新生儿 Fc 受体(FcRn)和免疫系统的其他各种元素。