Suppr超能文献

肌阵挛障碍

Myoclonic Disorders.

作者信息

Eberhardt Olaf, Topka Helge

机构信息

Klinik für Neurologie, Klinikum Bogenhausen, Städt. Klinikum München GmbH, Englschalkinger Str. 77, 81925 München, Germany.

出版信息

Brain Sci. 2017 Aug 14;7(8):103. doi: 10.3390/brainsci7080103.

Abstract

Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophysiology and genetic basis of many disorders presenting with myoclonus. Here, we provide a review of all of the important types of myoclonus encountered in pediatric and adult neurology, with an emphasis on the recent developments that have led to a deeper understanding of this intriguing phenomenon. An up-to-date list of the genetic basis of all major myoclonic disorders is presented. Randomized studies are scarce in myoclonus therapy, but helpful pragmatic approaches at diagnosis as well as treatment have been recently suggested.

摘要

很少有运动障碍比肌阵挛更难进行直接的诊断和治疗,也更令人沮丧,因为其病因众多且分类多样。然而,近年来,在阐明许多伴有肌阵挛的疾病的病理生理学和遗传基础方面取得了令人兴奋的进展。在此,我们对儿科和成人神经病学中遇到的所有重要类型的肌阵挛进行综述,重点介绍那些使我们对这一有趣现象有更深入理解的最新进展。列出了所有主要肌阵挛性疾病的最新遗传基础清单。在肌阵挛治疗方面,随机研究很少,但最近有人提出了在诊断和治疗方面实用的方法。

相似文献

1
Myoclonic Disorders.
Brain Sci. 2017 Aug 14;7(8):103. doi: 10.3390/brainsci7080103.
2
[Myoclonus and epilepsies in children].
Rev Neurol (Paris). 1991;147(12):782-97.
3
Myoclonus and epilepsies.
Indian J Pediatr. 1997 Sep-Oct;64(5):583-602. doi: 10.1007/BF02726110.
5
Chapter 33: the history of movement disorders.
Handb Clin Neurol. 2010;95:501-46. doi: 10.1016/S0072-9752(08)02133-7.
6
[Myoclonus and epilepsy: diagnosis and pathophysiology].
Rev Neurol (Paris). 2008 Jan;164(1):3-11. doi: 10.1016/j.neurol.2007.12.001. Epub 2008 Jan 25.
7
[Myoclonic epilepsies in infancy].
Rev Neurol. 2000 Jun;30 Suppl 1:S15-24.
8
Differential diagnosis of familial adult myoclonic epilepsy.
Epilepsia. 2023 Jun;64 Suppl 1:S52-S57. doi: 10.1111/epi.17536. Epub 2023 Feb 21.
9
Myoclonus.
Curr Opin Neurol. 2009 Aug;22(4):414-8. doi: 10.1097/WCO.0b013e32832d9d4f.

引用本文的文献

1
Recurrent Falls as the Only Clinical Sign of Cortical-Subcortical Myoclonus: A Case Report.
NeuroSci. 2023 Dec 28;5(1):1-7. doi: 10.3390/neurosci5010001. eCollection 2024 Mar.
2
Flapping Tremor: Unraveling Asterixis-A Narrative Review.
Medicina (Kaunas). 2024 Feb 21;60(3):362. doi: 10.3390/medicina60030362.
3
Efficacy of Granisetron versus Sufentanil on Reducing Myoclonic Movements Following Etomidate: Double-blind, randomised clinical trial.
Sultan Qaboos Univ Med J. 2023 Aug;23(3):380-386. doi: 10.18295/squmj.1.2023.009. Epub 2023 Aug 28.
4
Video case: A new phenotype within the spectrum of functional orofacial movement disorders.
J Neurol. 2023 Dec;270(12):6159-6162. doi: 10.1007/s00415-023-11949-y. Epub 2023 Aug 24.
5
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Commun Biol. 2023 May 25;6(1):560. doi: 10.1038/s42003-023-04932-w.
6
Quantifying MR head motion in the Rhineland Study - A robust method for population cohorts.
Neuroimage. 2023 Jul 15;275:120176. doi: 10.1016/j.neuroimage.2023.120176. Epub 2023 May 18.
7
Adult-onset idiopathic opsoclonus-myoclonus syndrome.
Arq Bras Oftalmol. 2023 Mar 24;87(4). doi: 10.5935/0004-2749.2022-0024.
8
Human stefin B: from its structure, folding, and aggregation to its function in health and disease.
Front Mol Neurosci. 2022 Oct 21;15:1009976. doi: 10.3389/fnmol.2022.1009976. eCollection 2022.
9
Characteristics of Kundalini-Related Sensory, Motor, and Affective Experiences During Tantric Yoga Meditation.
Front Psychol. 2022 Jun 30;13:863091. doi: 10.3389/fpsyg.2022.863091. eCollection 2022.
10
Treatable Hyperkinetic Movement Disorders Not to Be Missed.
Front Neurol. 2021 Dec 1;12:659805. doi: 10.3389/fneur.2021.659805. eCollection 2021.

本文引用的文献

1
A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus.
Clin Neurophysiol Pract. 2017 Feb 5;2:62-64. doi: 10.1016/j.cnp.2017.01.001. eCollection 2017.
4
The clinical heterogeneity of drug-induced myoclonus: an illustrated review.
J Neurol. 2017 Aug;264(8):1559-1566. doi: 10.1007/s00415-016-8357-z. Epub 2016 Dec 16.
5
Post-hypoxic Myoclonus: Current Concepts, Neurophysiology, and Treatment.
Tremor Other Hyperkinet Mov (N Y). 2016 Sep 17;6:409. doi: 10.7916/D89C6XM4. eCollection 2016.
6
Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.
Epileptic Disord. 2016 Sep 1;18(S2):145-153. doi: 10.1684/epd.2016.0861.
7
Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.
Front Neurol. 2016 May 13;7:72. doi: 10.3389/fneur.2016.00072. eCollection 2016.
9
Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?
Acta Neurol Scand. 2017 Jan;135(1):25-33. doi: 10.1111/ane.12609. Epub 2016 May 6.
10
Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment.
Expert Rev Neurother. 2016 Jun;16(6):641-8. doi: 10.1080/14737175.2016.1176914. Epub 2016 Apr 27.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验