Doumiati Hassan, Ezzeddine Ali
Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.
Case Rep Neurol. 2024 Aug 14;16(1):233-241. doi: 10.1159/000540916. eCollection 2024 Jan-Dec.
Anti-MuSK antibodies obstruct MuSK binding sites, leading to acetylcholine receptor (AChR) displacement within the postsynaptic membrane. MuSK MG patients often exhibit bulbar involvement and respiratory crises, setting them apart from other MG subtypes.
A case of a 51-year-old male with MuSK MG that presented as isolated respiratory failure was compared to similar cases in the literature. The objectives were to explore the varied clinical presentations, treatment approaches, and outcomes, and to better understand the management of this subgroup of MG. The patient responded well to treatment with pyridostigmine, steroids, and intravenous immunoglobulins and immunosuppressive therapy.
A review of the literature revealed varied clinical presentations and treatment approaches among reported cases. Long-term prognosis appears favorable, requiring ongoing immunosuppressive management. Although the reported outcomes of MuSK MG patients with respiratory insufficiency show substantial heterogeneity, long-term prognosis appears favorable.
抗肌肉特异性激酶（MuSK）抗体阻碍MuSK结合位点，导致突触后膜内乙酰胆碱受体（AChR）移位。MuSK型重症肌无力（MG）患者常表现出延髓受累和呼吸危机，这使他们有别于其他MG亚型。
将一名表现为单纯呼吸衰竭的51岁MuSK型MG男性患者与文献中的类似病例进行比较。目的是探讨不同的临床表现、治疗方法和结果，并更好地了解该MG亚组的管理。该患者对吡啶斯的明、类固醇、静脉注射免疫球蛋白和免疫抑制治疗反应良好。
文献回顾显示，报告病例的临床表现和治疗方法各不相同。长期预后似乎良好，需要持续的免疫抑制管理。尽管报告的呼吸功能不全的MuSK型MG患者的结果显示出很大的异质性，但长期预后似乎良好。
