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

Abia Abdullah; Sana Ashraf; Prem Chand

doi:10.47391/JPMA.21352

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

Abia Abdullah, Sana Ashraf, Prem Chand

Department of Paediatrics and Child Health, Division of Woman and Child Health, Medical College, Pakistan

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	1158-1161
Number of pages	4
Journal	Journal of the Pakistan Medical Association
Volume	75
Issue number	7
DOIs	https://doi.org/10.47391/JPMA.21352
Publication status	Published - 1 Jul 2025

Keywords

Congenital myasthenia gravis
IgA
IgG
Pyridostigmine
Salbutamol

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10.47391/JPMA.21352

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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.",

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AU - Ashraf, Sana

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AB - 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.

KW - Congenital myasthenia gravis

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KW - IgG

KW - Pyridostigmine

KW - Salbutamol

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JF - Journal of the Pakistan Medical Association

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ER -

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

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Keywords

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