Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models

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Abstract: Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging into synaptic vesicles, or its subsequent release into the synaptic cleft. Other proteins involved in presynaptic endplate development and maintenance can also be impaired.

Presynaptic CMS usually presents during the prenatal or neonatal period, with a severe phenotype including congenital arthrogryposis, developmental delay, and apnoeic crisis. However, milder phenotypes with proximal muscle weakness and good response to treatment have been described. Finally, many presynaptic genes are expressed in the brain, justifying the presence of additional central nervous system symptoms.

Several animal models have been developed to study CMS, providing the opportunity to identify disease mechanisms and test treatment options. In this review, we describe presynaptic CMS phenotypes with a focus on in vivo models, to better understand CMS pathophysiology and define new causative genes

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Journal of neuromuscular diseases. - 10, 5 (2023) , 731-759, ISSN: 2214-3602

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2023

Creator: Pugliese, Alessia
Holland, Stephen H.
Rodolico, Carmelo
Lochmüller, Hanns
Spendiff, Sally

DOI: 10.3233/jnd-221646

URN: urn:nbn:de:bsz:25-freidok-2366592

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 AM CEST

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Associated

Pugliese, Alessia
Holland, Stephen H.
Rodolico, Carmelo
Lochmüller, Hanns
Spendiff, Sally
Universität

Time of origin

2023

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Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models

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Other Objects (12)

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