Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Ramdas S., Dong YY., Munot P., Natera de Benito D., Osorio AN., Maggi L., Bönnemann CG., McAnally M., Schara-Schmidt U., Della Marina A., Kostera-Pruszczyk A., Milone M., Evoli A., Jungbluth H., Lochmüller H., Beeson D., Reddel S., Palace J.
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.