Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency

Authors

  • Abia Abdullah 3rd Year MBBS Student, Aga Khan University Hospital, Karachi, Pakistan
  • Sana Ashraf 3rd Year MBBS Student, Aga Khan University Hospital, Karachi, Pakistan
  • Prem Chand Department of Paeds Neurology, Aga Khan University Hospital, Karachi, Pakistan

DOI:

https://doi.org/10.47391/JPMA.21352

Keywords:

Congenital myasthenia gravis, Pyridostigmine, Salbutamol, Ig A, Ig G

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.

Keywords: Congenital myasthenia gravis, Pyridostigmine, Salbutamol, Ig A, Ig G.

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Published

2025-07-01

How to Cite

Abdullah, A., Ashraf , S., & Prem Chand. (2025). Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency. Journal of the Pakistan Medical Association, 75(07), 1158–1161. https://doi.org/10.47391/JPMA.21352

Issue

Vol. 75 No. 07 (2025): JULY

Section

STUDENT'S CORNER CASE REPORT

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Copyright (c) 2025 Journal of the Pakistan Medical Association

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This work is licensed under a Creative Commons Attribution 4.0 International License.