[SMC] Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor

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Med Sci (Paris). 2023 Nov;39 Hors série n° 1:58-63. doi: 10.1051/medsci/2023135. Epub 2023 Nov 17.

ABSTRACT

Congenital myasthenic syndromes (CMS) are genetically and phenotypically very heterogeneous conditions resulting in a defect in the neuromuscular transmission. Post-synaptic forms are the most frequent CMSs, and acetyl choline receptor (low expressor) deficiency is the most commonly involved pathophysiological mechanism. CMS with kinetic abnormalities of the acetylcholine receptor (AChr) are much rarer and can give rise to potentially life-threatening phenotypes. Among them, two types have been described: the slow channel syndrome (SCS) and the fast channel syndrome (FCS). Diagnosis and therapeutic management of such entities are specific to each type. In this work, we will illustrate the phenotypic aspects of CMS with kinetic abnormalities of the AChR by a narrative review of three Algerian families.

PMID:37975772 | DOI:10.1051/medsci/2023135


Source: https://pubmed.ncbi.nlm.nih.gov/3797577 ... 8&v=2.18.0