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伴关节挛缩的遗传性肌肉病

孙晓晗 崔丽英

孙晓晗, 崔丽英. 伴关节挛缩的遗传性肌肉病[J]. 协和医学杂志, 2021, 12(1): 80-85. doi: 10.12290/xhyxzz.20200152
引用本文: 孙晓晗, 崔丽英. 伴关节挛缩的遗传性肌肉病[J]. 协和医学杂志, 2021, 12(1): 80-85. doi: 10.12290/xhyxzz.20200152
SUN Xiao-han, CUI Li-yin. Hereditary Myopathy with Joint Contracture[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(1): 80-85. doi: 10.12290/xhyxzz.20200152
Citation: SUN Xiao-han, CUI Li-yin. Hereditary Myopathy with Joint Contracture[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(1): 80-85. doi: 10.12290/xhyxzz.20200152

伴关节挛缩的遗传性肌肉病

doi: 10.12290/xhyxzz.20200152
基金项目: 

中国医学科学院医学与健康科技创新工程 2016-I2M-1-004

重要罕见病的临床诊疗规范研究 2016YFC0905103

中国科学院B类先导科技专项培育项目 XDB39040100

详细信息
    通讯作者:

    崔丽英  电话:010-69151371,E-mail: pumchcuily@yahoo.com

  • 中图分类号: R322.7+2;S857.16+6

Hereditary Myopathy with Joint Contracture

More Information
  • 摘要: 肌肉病按病因可分为先天遗传性和后天获得性,临床表现并不特异,包括肌无力、肌肉萎缩、肌肉肥大、关节挛缩等,部分患者也可能会有心肌、呼吸肌、皮肤、中枢及周围神经系统等骨骼肌外受累表现。一些患者肌无力症状较轻,而关节挛缩或脊柱强直症状较明显,这一特殊表现为疾病诊断提供了线索。临床接诊时,医生需详细询问患者家族史,认真进行神经系统查体以及心肌和呼吸系统的综合评估,从而作出初步诊断; 肌电图、肌肉MRI、骨骼肌/皮肤活检和基因检测等辅助检查有助于明确诊断。本文重点介绍伴关节挛缩的遗传性肌肉病,包括胶原纤维病Ⅵ型、Emery-Dreifuss肌营养不良、SEPN1相关肌病以及FHL1相关肌病等,以提高临床对该病的认知。
    利益冲突  无
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出版历程
  • 收稿日期:  2020-06-08
  • 录用日期:  2020-06-22
  • 刊出日期:  2021-01-30

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