• British medical bulletin · Sep 2024

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

    • David O'Brien and Pamela J Shaw.
    • Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 285 Glossop Road, Sheffield S10 2HQ, United Kingdom.
    • Br. Med. Bull. 2024 Sep 29.

    IntroductionMotor neuron disease (MND) is a devastating neurodegenerative disease characterized by progressive muscle weakness.Sources Of DataPubMed, 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 AgreementEvidence-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 ControversyEdaravone and Relyvrio are approved treatments in the USA, but insufficient evidence was found to support approval in the UK and Europe.Growing PointsThe 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 ResearchFurther work should focus on the elucidation of environmental causes of MND, gene-environment interactions, and advanced cellular models of disease.© The Author(s) 2024. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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