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February 5, 2026Brain1 citations

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

HRH. RamjattanYDYin Yao DongPMP. Munot

Key Points

  • To evaluate the implications of renaming congenital myasthenic syndrome to genetic myasthenic syndrome.
  • Literature review on congenital myasthenic syndrome
  • Analysis of nomenclature impact on diagnosis
  • Discussion of patient management strategies
  • Redefining the syndrome may clarify neonatal vs. genetic onset.
  • Potential for improved diagnostic timelines and patient management.
  • Increased awareness could lead to better patient outcomes.

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.

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Cite This Study

Ramjattan et al. (2026) studied this question.

synapsesocial.com/papers/698434ebf1d9ada3c1fb3a95https://doi.org/10.1093/brain/awag035
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