Congenital myasthenic syndromes: increasingly complex.
| Autor: | Ramdas S; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford.; Department of Paediatric Neurology, John Radcliffe Hospital., Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS., Dong YY; Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS. |
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| Jazyk: | angličtina |
| Zdroj: | Current opinion in neurology [Curr Opin Neurol] 2024 Oct 01; Vol. 37 (5), pp. 493-501. Date of Electronic Publication: 2024 Jul 25. |
| DOI: | 10.1097/WCO.0000000000001300 |
| Abstrakt: | Purpose of Review: Congenital myasthenia syndromes (CMS) are treatable, inherited disorders affecting neuromuscular transmission. We highlight that the involvement of an increasing number of proteins is making the understanding of the disease mechanisms and potential treatments progressively more complex. Recent Findings: Although early studies identified mutations of proteins directly involved in synaptic transmission at the neuromuscular junction, recently, next-generation sequencing has facilitated the identification of many novel mutations in genes that encode proteins that have a far wider expression profile, some even ubiquitously expressed, but whose defective function leads to impaired neuromuscular transmission. Unsurprisingly, mutations in these genes often causes a wider phenotypic disease spectrum where defective neuromuscular transmission forms only one component. This has implications for the management of CMS patients. Summary: Given the widening nonneuromuscular junction phenotypes in the newly identified forms of CMS, new therapies need to include disease-modifying approaches that address not only neuromuscular weakness but also the multisystem involvement. Whilst the current treatments for CMS are highly effective for many subtypes there remains, in a proportion of CMS patients, an unmet need for more efficacious therapies. (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.) |
| Databáze: | MEDLINE |
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