[SMC] Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthe
Posté : 20 juin 2022 12:00
Front Neurol. 2022 Jun 2;13:909715. doi: 10.3389/fneur.2022.909715. eCollection 2022.
ABSTRACT
Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of CHRNE-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment.
PMID:35720108 | PMC:PMC9201482 | DOI:10.3389/fneur.2022.909715
Source: https://pubmed.ncbi.nlm.nih.gov/3572010 ... 3&v=2.17.6