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Reddel, Stephen SW

Mayo Clinic

MIND Research Institute

Citations 1

Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Ramdas, Sithara , Dong, Yin Yao , Munot, P., Benito, Daniel Natera de, Osorio, A Nascimento, Maggi, Lorenzo, Bönnemann, C, McAnally, Meghan , Schara-Schmidt, Ulrike, Marina, Adela Della , Kostera-Pruszczyk, Anna, Milone, Margherita , Evoli, Amelia , Jungbluth, Heinz, Lochmüller, H., Beeson, D. J., Reddel, Stephen SW, Palace, Jacqueline, Palace, Jacqueline , Jungbluth, Heinz , Beeson, David , Palace, Jacqueline , Munot, Pinki , Benito, Daniel Natera‐de , Maggi, Lorenzo , Bönnemann, Carsten G. , Schara, Ulrike , Kostera‐Pruszczyk, Anna , Reddel, Stephen

Brain | February 2, 2026 | Volume: 149 | Issue: 6 | Pages: 1816-1818

10.1093/brain/awag035 Get It

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.