Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

Tanya Stojkovic,Marion Masingue, Helène Turmel, Marianne Hezode-Arzel,Anthony Béhin,Sarah Leonard-Louis,Guillaume Bassez,Stéphanie Bauché, Patricia Blondy,Pascale Richard,Damien Sternberg,Bruno Eymard,Emmanuel Fournier,Rocío Nur Villar-Quiles

Neuromuscular Disorders（2022）

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摘要

•Interpretation of novel or unknown significance variants in CMS-related genes is challenging.•We propose a simple, painless ENMG protocol based on 3Hz-repetitive nerve stimulation.•5 ENMG patterns based on the presence of R-CMAPs and the distribution of decrements in selected muscles.•ENMG patterns significantly correlated with the genetic findings.•This algorithm may improve diagnosis and therapeutic monitoring in CMS patients.

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关键词

EDX,Genetics,Neuromuscular disease,Myasthenia,Congenital Myasthenic Syndromes

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