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...
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| Format: | Article |
| Language: | English |
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Tianjin Huanhu Hospital
2017-08-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
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| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/1642 |
| _version_ | 1811338158729592832 |
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| author | Meng YU Zhao-xia WANG |
| author_facet | Meng YU Zhao-xia WANG |
| author_sort | Meng YU |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-04-13T18:05:50Z |
| format | Article |
| id | doaj.art-d13fd36042bc436baa75f82fd8b50788 |
| institution | Directory Open Access Journal |
| issn | 1672-6731 |
| language | English |
| last_indexed | 2024-04-13T18:05:50Z |
| publishDate | 2017-08-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj.art-d13fd36042bc436baa75f82fd8b507882022-12-22T02:36:04ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312017-08-011785785851606Advances in diagnosis and treatment of limb-girdle muscular dystrophyMeng YU0Zhao-xia WANG1Department of Neurology, Peking University First Hospital, Beijing 100034, ChinaDepartment of Neurology, Peking University First Hospital, Beijing 100034, ChinaLimb - 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.1672-6731.2017.08.005http://www.cjcnn.org/index.php/cjcnn/article/view/1642Muscular dystrophies, limb-girdleReview |
| spellingShingle | Meng YU Zhao-xia WANG Advances in diagnosis and treatment of limb-girdle muscular dystrophy Chinese Journal of Contemporary Neurology and Neurosurgery Muscular dystrophies, limb-girdle Review |
| title | Advances in diagnosis and treatment of limb-girdle muscular dystrophy |
| title_full | Advances in diagnosis and treatment of limb-girdle muscular dystrophy |
| title_fullStr | Advances in diagnosis and treatment of limb-girdle muscular dystrophy |
| title_full_unstemmed | Advances in diagnosis and treatment of limb-girdle muscular dystrophy |
| title_short | Advances in diagnosis and treatment of limb-girdle muscular dystrophy |
| title_sort | advances in diagnosis and treatment of limb girdle muscular dystrophy |
| topic | Muscular dystrophies, limb-girdle Review |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/1642 |
| work_keys_str_mv | AT mengyu advancesindiagnosisandtreatmentoflimbgirdlemusculardystrophy AT zhaoxiawang advancesindiagnosisandtreatmentoflimbgirdlemusculardystrophy |