Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?

Brain 2026 Open access

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Authors: Sithara Ramdas, Yin Yao Dong, Pinki Munot, Daniel Natera de Benito, A Nascimento Osorio, Lorenzo Maggi, C Bönnemann, Meghan McAnally, Ulrike Schara-Schmidt, Adela Della Marina, Anna Kostera-Pruszczyk, Margherita Milone
+6 more Amelia Evoli, Heinz Jungbluth, Hanns Lochmüller, D. J. Beeson, Stephen SW Reddel, Jacqueline Palace
DOI: 10.1093/brain/awag035
Cited by: 1
References: 10

Abstract

Ramdas et al. propose renaming ‘congenital myasthenic syndrome’ as ‘genetic myasthenic syndrome’. They argue that ‘congenital’ misleadingly implies neonatal onset, which may contribute to delayed diagnosis and management, and that revised nomenclature could improve patient outcomes.

Fields of Study & Subjects

Myasthenia Gravis and Thymoma Adrenal Hormones and Disorders Parkinson's Disease and Spinal Disorders

Publication details

Journal / source
Brain
Publisher
Oxford University Press (OUP)
Volume
149
Issue
6
Pages
1816–1818
Publication date
2 February 2026
Language
EN