Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia
Neurology Department, Concord Hospital, Concord, New South Wales, Australia.
Pract Neurol. 2024 Nov 17;24(6):467-477. doi: 10.1136/pn-2024-004148.
Neuromuscular junction (NMJ) disorders represent a heterogenous group of acquired and congenital disorders that present in variable and distinctive ways. The diagnosis is typically reached through a combination of clinical, serological, pharmacological and electrophysiological evaluation. While the diagnosis can be fairly straightforward in some cases, the overlap with other neurological disorders can make diagnosis challenging, particularly in pure ocular presentations and in seronegative patients. The over-reliance on serological tests and electrophysiological evaluation in isolation can lead to misdiagnosis. In this article, we provide an overview of the NMJ disorders, discuss red flags for the key differential diagnoses (mimics) and report the atypical ways in which NMJ disorders may present (chameleons).
神经肌肉接头（NMJ）疾病是一组异质性的获得性和先天性疾病，其表现形式多样且具有特征性。该诊断通常通过临床、血清学、药理学和电生理学评估的组合来确定。虽然在某些情况下诊断可能相当直接，但与其他神经疾病的重叠可能使诊断具有挑战性，尤其是在单纯眼部表现和血清阴性患者中。过度依赖血清学检测和电生理学评估可能会导致误诊。本文概述了 NMJ 疾病，讨论了关键鉴别诊断（类似物）的警示信号，并报告了 NMJ 疾病可能出现的非典型方式（变色龙）。
