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临床实践中的重症肌无力。

Myasthenia gravis in clinical practice.

机构信息

Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.

Fundação Faculdade Regional de Medicina de São José do Rio Preto, Hospital de Base, Departamento de Neurologia, São José do Rio Preto SP, Brazil.

出版信息

Arq Neuropsiquiatr. 2022 May;80(5 Suppl 1):257-265. doi: 10.1590/0004-282X-ANP-2022-S105.

DOI:10.1590/0004-282X-ANP-2022-S105
PMID:35976295
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9491427/
Abstract

BACKGROUND

Myasthenia gravis is largely a treatable disease, but it can result in significant morbidity and even mortality, which can usually be avoided, or at least mitigated, with timely diagnosis and appropriate treatment of the disease. Objective: this review aims to summarize the main practical aspects of the diagnostic approach, treatment and care of myasthenic patients.

METHODS

The authors performed a non-systematic critical review summarizing the main practical aspects of myasthenia gravis.

RESULTS

Most patients with myasthenia have autoantibodies targeted at acetylcholine receptors or, less commonly, muscle-specific kinase - MuSK. Electrophysiology plays an important role in the diagnosis of neuromuscular junction dysfunction. The central clinical manifestation of myasthenia gravis is fatigable muscle weakness, which can affect eye, bulbar, respiratory, and limb muscles. With rare exceptions, patients have a good response to symptomatic treatment, but corticosteroids and/or immunosuppressants are usually also necessary to obtain good control of the manifestations of the disease.

CONCLUSION

Knowledge of the peculiar aspects of their clinical and electrophysiological presentations is important for the diagnosis. Likewise, specific treatment and response time to each drug are crucial for proper care.

摘要

背景

重症肌无力在很大程度上是一种可治疗的疾病,但它可能导致严重的发病率,甚至死亡率,通常可以通过及时诊断和适当的疾病治疗来避免,或至少减轻。目的:本综述旨在总结重症肌无力患者的诊断方法、治疗和护理的主要实用方面。

方法

作者进行了非系统性的批判性综述,总结了重症肌无力的主要实用方面。

结果

大多数重症肌无力患者的自身抗体针对乙酰胆碱受体,或不太常见的是肌肉特异性激酶-MuSK。电生理学在神经肌肉接头功能障碍的诊断中起着重要作用。重症肌无力的中央临床表现是易疲劳的肌肉无力,可影响眼、球、呼吸和肢体肌肉。除了罕见的例外情况,患者对症状治疗有很好的反应,但通常还需要皮质类固醇和/或免疫抑制剂来获得对疾病表现的良好控制。

结论

了解其临床和电生理表现的特殊方面对于诊断很重要。同样,每种药物的特定治疗和反应时间对于适当的护理也是至关重要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a6d/9491427/f210bf7779f9/1678-4227-anp-80-05-s1-s105-gf2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a6d/9491427/bfbc1e63cda5/1678-4227-anp-80-05-s1-s105-gf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a6d/9491427/f210bf7779f9/1678-4227-anp-80-05-s1-s105-gf2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a6d/9491427/bfbc1e63cda5/1678-4227-anp-80-05-s1-s105-gf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a6d/9491427/f210bf7779f9/1678-4227-anp-80-05-s1-s105-gf2.jpg

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Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.先天性肌无力综合征:临床特征与分子诊断的相关性。
Eur J Neurol. 2022 Mar;29(3):833-842. doi: 10.1111/ene.15173. Epub 2021 Nov 17.
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Electrodiagnostic Assessment of Neuromuscular Junction Disorders.
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