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
{"title":"神经肌肉接头疾病:模仿者和变色龙。","authors":"Shadi El-Wahsh, Clare Fraser, Steve Vucic, Stephen Reddel","doi":"10.1136/pn-2024-004148","DOIUrl":null,"url":null,"abstract":"<p><p>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).</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4000,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Neuromuscular junction disorders: mimics and chameleons.\",\"authors\":\"Shadi El-Wahsh, Clare Fraser, Steve Vucic, Stephen Reddel\",\"doi\":\"10.1136/pn-2024-004148\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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).</p>\",\"PeriodicalId\":39343,\"journal\":{\"name\":\"PRACTICAL NEUROLOGY\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-08-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PRACTICAL NEUROLOGY\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/pn-2024-004148\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PRACTICAL NEUROLOGY","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/pn-2024-004148","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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).

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信