Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
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.
Authors
- A Nascimento Osorio
- H. Lochmüller
- Adela Della Marina (ORCID: https://orcid.org/0000-0003-0737-6142)
- Meghan McAnally (ORCID: https://orcid.org/0000-0003-3662-6227)
- P. Munot
- Yin Yao Dong (ORCID: https://orcid.org/0000-0001-8600-6988)
- Amelia Evoli (ORCID: https://orcid.org/0000-0002-4644-2299)
- Stephen SW Reddel
- D. J. Beeson
- C Bönnemann
- Heinz Jungbluth
- Lorenzo Maggi
- Jacqueline Palace
- Ulrike Schara-Schmidt
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Hospital Sant Joan de Déu Barcelona (ES)
- Mayo Clinic (US)
- King's College London (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Medical University of Warsaw (PL)
- Children's Hospital of Eastern Ontario (CA)
- Great Ormond Street Hospital (GB)
- Ottawa Hospital (CA)
- University Medical Center Freiburg (DE)
- WinnMed (US)
- Agostino Gemelli University Polyclinic (IT)
- John Radcliffe Hospital (GB)
- University of Oxford (GB)
- MIND Research Institute (US)
- MRC Weatherall Institute of Molecular Medicine (GB)
- National Institute of Neurological Disorders and Stroke (US)
- Essen University Hospital (DE)
- Centro Nacional de Análisis Genómico (ES)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University College London (GB)
- University of Duisburg-Essen (DE)
Publication Details
- Journal
- Brain
- Published
- 2026-02-02
- DOI
- https://doi.org/10.1093/brain/awag035
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 0.00