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

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

Authors: Abia Abdullah, Sana Ashraf , Prem Chand

Journal: Journal of Pakistan Medical Association

HEC Recognition History
Category From To
Y 2024-10-01 2025-12-31
X 2023-07-01 2024-09-30
X 2022-07-01 2023-06-30
X 2021-07-01 2022-06-30
X 2020-07-01 2021-06-30
W 2012-07-01 2020-06-30
X 2011-05-13 2012-06-30
Y 1900-01-01 2005-06-30

Publisher: Pakistan Medical Association.

Country: Pakistan

Year: 2025

Volume: 75

Issue: 7

Language: en

DOI: 10.47391/JPMA.21352

Keywords: SalbutamolCongenital myasthenia gravisPyridostigmineIg AIg G

Categories
Asthma (120) Pharmacology (22872) Immunology (7543) Pediatrics (13616) Neurology (7533)

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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