New developments in the diagnosis and management of motor neuron disease.

IF 6.7 2区 医学 Q1 Medicine
David O'Brien, Pamela J Shaw
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引用次数: 0

Abstract

Introduction: Motor neuron disease (MND) is a devastating neurodegenerative disease characterized by progressive muscle weakness.

Sources of data: PubMed, MEDLINE, and Cochrane databases were searched for articles to March 2024. Searches involved the terms 'motor neuron disease' or 'amyotrophic lateral sclerosis' and 'epidemiology', 'diagnosis', 'clinical', 'genetic', 'management', 'treatment', or 'trial'.

Areas of agreement: Evidence-based management involves riluzole, multidisciplinary care, provision of noninvasive ventilation and gastrostomy, and symptomatic treatments. Tofersen should be offered to treat SOD1-MND.

Areas of controversy: Edaravone and Relyvrio are approved treatments in the USA, but insufficient evidence was found to support approval in the UK and Europe.

Growing points: The discovery of neurofilaments as MND biomarkers, growth of platform trials and development of novel therapies provide optimism for more powerful neuroprotective therapies.

Areas timely for developing research: Further work should focus on the elucidation of environmental causes of MND, gene-environment interactions, and advanced cellular models of disease.

运动神经元疾病诊断和管理的新进展。
导言:运动神经元病(MND)是一种以进行性肌无力为特征的破坏性神经退行性疾病:对 PubMed、MEDLINE 和 Cochrane 数据库中截至 2024 年 3 月的文章进行了检索。检索词包括 "运动神经元病 "或 "肌萎缩侧索硬化症 "以及 "流行病学"、"诊断"、"临床"、"遗传"、"管理"、"治疗 "或 "试验":基于证据的管理包括利鲁唑、多学科护理、提供无创通气和胃造口术以及对症治疗。在治疗 SOD1-MND 时应使用托非森:依达拉奉(Edaravone)和雷利维奥(Relyvrio)是美国批准的治疗药物,但在英国和欧洲却没有足够的证据支持其获得批准:增长点:作为 MND 生物标志物的神经丝的发现、平台试验的发展和新型疗法的开发为更强大的神经保护疗法提供了乐观的前景:进一步的工作应侧重于阐明 MND 的环境原因、基因与环境的相互作用以及先进的疾病细胞模型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
British medical bulletin
British medical bulletin 医学-医学:内科
CiteScore
13.10
自引率
1.50%
发文量
24
审稿时长
>12 weeks
期刊介绍: British Medical Bulletin is a multidisciplinary publication, which comprises high quality reviews aimed at generalist physicians, junior doctors, and medical students in both developed and developing countries. Its key aims are to provide interpretations of growing points in medicine by trusted experts in the field, and to assist practitioners in incorporating not just evidence but new conceptual ways of thinking into their practice.
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