沙丁胺醇在先天性肌无力综合征（CMS）和相关的IgA和IgG缺乏的管理。

IF 0.8 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Journal of the Pakistan Medical Association Pub Date : 2025-07-01 DOI:10.47391/JPMA.21352

Abia Abdullah, Sana Ashraf, Prem Chand

{"title":"沙丁胺醇在先天性肌无力综合征（CMS）和相关的IgA和IgG缺乏的管理。","authors":"Abia Abdullah, Sana Ashraf, Prem Chand","doi":"10.47391/JPMA.21352","DOIUrl":null,"url":null,"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.","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1158-1161"},"PeriodicalIF":0.8000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency.\",\"authors\":\"Abia Abdullah, Sana Ashraf, Prem Chand\",\"doi\":\"10.47391/JPMA.21352\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":54369,\"journal\":{\"name\":\"Journal of the Pakistan Medical Association\",\"volume\":\"75 7\",\"pages\":\"1158-1161\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the Pakistan Medical Association\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.47391/JPMA.21352\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Pakistan Medical Association","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.47391/JPMA.21352","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 0

摘要

1例13个月大的女婴，因CHRNE和GMPPB突变被诊断为先天性肌无力综合征，表现为肌肉不自主运动和上睑下垂伴嗜睡，对吡哆斯的明反应不佳，使用沙丁胺醇后症状改善。本病例报告强调了基因检测的重要性和对沙丁胺醇的临床反应，强调了其在CMS持续治疗中的潜在作用，并提供了一种更经济可行的治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

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

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of the Pakistan Medical Association Medicine-General Medicine

CiteScore

1.10

自引率

11.10%

发文量

983

审稿时长

3-6 weeks

期刊介绍： Primarily being a medical journal, JPMA publishes scholarly research focusing on the various fields in the areas of health and medical education. It publishes original research describing recent advances in health particularly clinical studies, clinical trials, assessments of pathogens of diagnostic importance, medical genetics and epidemiological studies. Review articles highlighting importance of various issues in the domain of public health, drug research and medical education are also accepted. As a leading journal of South Asia, JPMA remains cognizant of the recent advances in the rapidly growing fields of biomedical sciences, it invites and encourages scholars to write short reviews and invited editorials on the emerging issues. We particularly aim to promote health standards of developing countries by encouraging manuscript submissions on issues affecting the public health and health delivery services.