Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG deficiency
Document Type
Case Report
Department
Medical College Pakistan; Paediatrics and Child Health
Abstract
A 13-month-old girl, diagnosed with congenital myasthenic syndrome due to CHRNE and GMPPB mutation, presented with involuntary movement of muscles and ptosis along with lethargy, having a poor response to Pyridostigmine and improved symptoms with Salbutamol. This case report highlights the significance of genetic testing and the clinical response to Salbutamol, emphasising its potential role in the continued treatment of CMS and providing a more economical and feasible therapeutic approach.
Publication (Name of Journal)
The Journal of the Pakistan Medical Association
DOI
10.47391/JPMA.21352
Recommended Citation
Abdullah, A.,
Ashraf, S.,
Chand, P.
(2025). Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG deficiency. The Journal of the Pakistan Medical Association, 75(7), 1158-1161.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_mc/535