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肌阵挛:鉴别诊断与当前管理。

Myoclonus: Differential diagnosis and current management.

机构信息

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Genoa, Italy.

出版信息

Epilepsia Open. 2024 Apr;9(2):486-500. doi: 10.1002/epi4.12917. Epub 2024 Feb 9.

Abstract

Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) or the location of the generator (i.e., neurophysiological classification); particularly, knowing the anatomical source of myoclonus gives inputs on the observable clinical patterns, such as EMG bursts duration or EEG correlate, and guides the therapeutic choices. Among all the chronic disorders, myoclonus often presents itself as a manifestation of epilepsy. In this context, myoclonus has many facets. Myoclonus occurs as one, or the only, seizure manifestation while it can also present as a peculiar type of movement disorder; moreover, its electroclinical features within specific genetically determined epileptic syndromes have seldom been investigated. In this review, following a meeting of recognized experts, we provide an up-to-date overview of the neurophysiology and nosology surrounding myoclonus. Through the dedicated exploration of epileptic syndromes, coupled with pragmatic guidance, we aim to furnish clinicians and researchers alike with practical advice for heightened diagnostic management and refined treatment strategies. PLAIN LANGUAGE SUMMARY: In this work, we described myoclonus, a movement characterized by brief, shock-like jerks. Myoclonus could be present in different diseases and its correct diagnosis helps treatment.

摘要

肌阵挛通常表现为短暂(10-50ms 持续时间)、非节律性的抽搐运动。其病因差异很大,从自限性到慢性甚至进行性疾病不等,后者属于需要及时诊断的脑病表现。除了病因分类外,其他分类方法还包括肌阵挛的身体分布(即临床分类)或发生器的位置(即神经生理分类);特别是,了解肌阵挛的解剖来源可以提供有关可观察到的临床模式的信息,例如肌电图爆发的持续时间或脑电图相关性,并指导治疗选择。在所有慢性疾病中,肌阵挛通常表现为癫痫的一种表现。在这种情况下,肌阵挛有多种表现形式。肌阵挛可以作为一种或唯一的癫痫发作表现,也可以表现为一种特殊类型的运动障碍;此外,在特定遗传性癫痫综合征中,其电临床特征很少被研究。在本次会议中,我们汇集了专家意见,提供了有关肌阵挛的神经生理学和分类学的最新概述。通过对癫痫综合征的专门探索,并结合实际指导,我们旨在为临床医生和研究人员提供有关提高诊断管理和细化治疗策略的实用建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1fb/10984309/ffd7d99649b8/EPI4-9-486-g001.jpg

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