神经肌肉接头疾病:模仿者和变色龙。

IF 2.4 Q2 CLINICAL NEUROLOGY
Shadi El-Wahsh, Clare Fraser, Steve Vucic, Stephen Reddel
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引用次数: 0

摘要

神经肌肉接头(NMJ)疾病是一组后天性和先天性疾病,表现形式各不相同,且各具特色。诊断通常需要结合临床、血清学、药理学和电生理学评估。虽然在某些病例中诊断相当简单,但与其他神经系统疾病的重叠会使诊断具有挑战性,尤其是在单纯的眼部表现和血清阴性的患者中。过分依赖血清学检测和电生理学评估可能会导致误诊。在本文中,我们将概述 NMJ 疾病,讨论主要鉴别诊断(拟态)的警示信号,并报告 NMJ 疾病的非典型表现形式(变色龙)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neuromuscular junction disorders: mimics and chameleons.

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).

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来源期刊
PRACTICAL NEUROLOGY
PRACTICAL NEUROLOGY Medicine-Neurology (clinical)
CiteScore
3.70
自引率
3.60%
发文量
113
期刊介绍: The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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