{"title":"肢带肌营养不良的诊断和治疗进展","authors":"Meng Yu, Zhao-xia Wang","doi":"10.3969/CJCNN.V17I8.1642","DOIUrl":null,"url":null,"abstract":"Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype and genetic defects. The diagnosis should be based on the combination of the clinical symptoms, muscle imaging findings, myo-pathological changes and genetic testing. Multi - discipline management is currently for patients. There has been progress in the diagnosis and treatment of LGMD worldwide in recent years. This review will summarize the advances in the LGMD diagnosis, treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD. DOI: 10.3969/j.issn.1672-6731.2017.08.005","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"578-585"},"PeriodicalIF":0.0000,"publicationDate":"2017-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Advances in diagnosis and treatment of limb-girdle muscular dystrophy\",\"authors\":\"Meng Yu, Zhao-xia Wang\",\"doi\":\"10.3969/CJCNN.V17I8.1642\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype and genetic defects. The diagnosis should be based on the combination of the clinical symptoms, muscle imaging findings, myo-pathological changes and genetic testing. Multi - discipline management is currently for patients. There has been progress in the diagnosis and treatment of LGMD worldwide in recent years. This review will summarize the advances in the LGMD diagnosis, treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD. DOI: 10.3969/j.issn.1672-6731.2017.08.005\",\"PeriodicalId\":10113,\"journal\":{\"name\":\"中国现代神经疾病杂志\",\"volume\":\"17 1\",\"pages\":\"578-585\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-08-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国现代神经疾病杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3969/CJCNN.V17I8.1642\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国现代神经疾病杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3969/CJCNN.V17I8.1642","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Advances in diagnosis and treatment of limb-girdle muscular dystrophy
Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype and genetic defects. The diagnosis should be based on the combination of the clinical symptoms, muscle imaging findings, myo-pathological changes and genetic testing. Multi - discipline management is currently for patients. There has been progress in the diagnosis and treatment of LGMD worldwide in recent years. This review will summarize the advances in the LGMD diagnosis, treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD. DOI: 10.3969/j.issn.1672-6731.2017.08.005
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