Suspicion of Duchenne Muscular Dystrophy in A 7-Year-Old Madurese Boy: A Rare Case Report

IF 0.2 Q4 PHARMACOLOGY & PHARMACY
Suci Rizalah Islamiyah, Garata Dwi, Yulia Nurul Putri, Suci Rizalah
{"title":"Suspicion of Duchenne Muscular Dystrophy in A 7-Year-Old Madurese Boy: A Rare Case Report","authors":"Suci Rizalah Islamiyah, Garata Dwi, Yulia Nurul Putri, Suci Rizalah","doi":"10.55561/ajhr.v2i2.88","DOIUrl":null,"url":null,"abstract":"Introduction: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys associated with a functional deficiency of dystrophin. The incidence of these cases reached 1 in 3500-6000 male births. Research at RSUPN Dr Cipto Mangunkusumo (RSCM) showed that DMD is the second most frequent neuromuscular disorder in children regardless there is no prevalence data available yet in Indonesia. It is quite complicated to diagnose DMD due to the limited facilities of genetic testing and its high cost.\nCase Presentation: A 7-year-old boy came with the main complaint of weakness in both legs progressively two years before admission. He had to hold onto the floor and then both knees when started to stand. There was a history of motor and speech delay but family history was denied. Vital signs and nutritional status were within normal. Laboratory examination revealed significantly elevated levels of CK, ALT, and AST. The EMG result supported the presence of myopathy. Due to a lack of facilities, genetic testing or muscle biopsy could not be done. He received prednisone once a day with a 14 mg dose and was scheduled to attend regular physiotherapy.\nConclusion: In a limited facilities area, the clinician should have a suspicion of DMD not only by anamnesis and clinical features, but also by considering the elevated levels of CK and myopathies on EMG.","PeriodicalId":8534,"journal":{"name":"Asian Journal of Pharmaceutical Research and Health Care","volume":null,"pages":null},"PeriodicalIF":0.2000,"publicationDate":"2023-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asian Journal of Pharmaceutical Research and Health Care","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.55561/ajhr.v2i2.88","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
引用次数: 0

Abstract

Introduction: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys associated with a functional deficiency of dystrophin. The incidence of these cases reached 1 in 3500-6000 male births. Research at RSUPN Dr Cipto Mangunkusumo (RSCM) showed that DMD is the second most frequent neuromuscular disorder in children regardless there is no prevalence data available yet in Indonesia. It is quite complicated to diagnose DMD due to the limited facilities of genetic testing and its high cost. Case Presentation: A 7-year-old boy came with the main complaint of weakness in both legs progressively two years before admission. He had to hold onto the floor and then both knees when started to stand. There was a history of motor and speech delay but family history was denied. Vital signs and nutritional status were within normal. Laboratory examination revealed significantly elevated levels of CK, ALT, and AST. The EMG result supported the presence of myopathy. Due to a lack of facilities, genetic testing or muscle biopsy could not be done. He received prednisone once a day with a 14 mg dose and was scheduled to attend regular physiotherapy. Conclusion: In a limited facilities area, the clinician should have a suspicion of DMD not only by anamnesis and clinical features, but also by considering the elevated levels of CK and myopathies on EMG.
一名7岁男童疑似杜氏肌营养不良:罕见病例报告
杜氏肌营养不良症(DMD)是一种儿童早期出现的x连锁疾病,其特征是受影响男孩的近端肌肉无力和小腿肥大,并伴有肌营养不良蛋白的功能缺陷。这些病例的发病率达到每3500至6000名男婴中有1例。RSUPN Cipto Mangunkusumo博士(RSCM)的研究表明,DMD是儿童中第二大最常见的神经肌肉疾病,尽管印度尼西亚尚无患病率数据。由于基因检测设备有限,且费用较高,DMD的诊断相当复杂。病例介绍:一名7岁男孩,入院前两年以两腿逐渐无力为主。当他开始站立时,他不得不抓住地板,然后双膝着地。有运动和语言迟缓史,但否认有家族病史。生命体征及营养状况均在正常范围内。实验室检查显示CK、ALT和AST水平显著升高,肌电图结果支持肌病的存在。由于缺乏设备,无法进行基因检测或肌肉活检。他每天接受一次14毫克剂量的强的松治疗,并定期接受物理治疗。结论:在有限的设施区域,临床医生不仅应通过记忆和临床特征来怀疑DMD,还应考虑肌电图上CK水平升高和肌病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信