Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

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. Interesti...

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Bibliographic Details
Published in:Frontiers in neurology 2022-06, Vol.13
Main Authors: Gómez-García de la Banda, Marta, Simental-Aldaba, Emmanuel, Fahmy, Nagia, Sternberg, Damien, Blondy, Patricia, Quijano-Roy, Susana, Malfatti, Edoardo
Format: Article
Language:English
Subjects:
CHRNE
congenital myasthenic syndrome
Neurology
neuromuscular junction
salbutamol
β2 adrenergic agonists
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Summary: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.
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2022.909715