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

2026/02/02 by Sithara Ramdas, Yin Yao Dong, P. Munot +15 · 1 voice
Medicine · #Adrenal Hormones and Disorders #Myasthenia Gravis and Thymoma #Parkinson's Disease and Spinal Disorders

paper · doi:10.1093/brain/awag035

openalex publication_date 2026/02/02 · openalex created_date 2026/02/03 · openalex updated_date 2026/07/22

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.

Discussions

• #WIMMReads 🧪 #MRCWIMM Group Leader Yin Dong is among clinicians and scientists with expertise in congenital #MyasthenicSyndrome suggesting it may be time to update the disease name to reduce misdia [bsky, 5 points, 0 comments]

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