中国研究型医院学会罕见病分会, 中国罕见病联盟, 北京罕见病诊疗与保障学会, 青少年成人脊髓性肌萎缩症临床诊疗指南中国专家组. 青少年成人脊髓性肌萎缩症临床诊疗指南[J]. 罕见病研究, 2023, 2(2): 231-255. DOI: 10.12376/j.issn.2097-0501.2023.02.010
引用本文: 中国研究型医院学会罕见病分会, 中国罕见病联盟, 北京罕见病诊疗与保障学会, 青少年成人脊髓性肌萎缩症临床诊疗指南中国专家组. 青少年成人脊髓性肌萎缩症临床诊疗指南[J]. 罕见病研究, 2023, 2(2): 231-255. DOI: 10.12376/j.issn.2097-0501.2023.02.010
Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Journal of Rare Diseases, 2023, 2(2): 231-255. DOI: 10.12376/j.issn.2097-0501.2023.02.010
Citation: Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Journal of Rare Diseases, 2023, 2(2): 231-255. DOI: 10.12376/j.issn.2097-0501.2023.02.010
  • 摘要: 近年来,脊髓性肌萎缩症(SMA)在多学科综合管理、疾病修正治疗药物等方面取得长足进步,明显提升了患者生存期及生活质量。然而,对于年龄较大的青少年与成人患者尚缺乏系统性临床诊疗指南规范和指导临床工作。基于循证医学原则,来自全国多家SMA诊疗中心的多学科专家经过充分讨论,达成一致意见,为SMA临床规范化诊疗提供重要依据。

     

    Abstract: In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients. However, no clinical practice guideline has developed for the management of SMA in adults and adolescents patients. Experts of multidisciplinary from a number of tertiary medical centers in China who specialize in the diagnosis and treatment of SMA have come to an agreement based on the evidence-based medicine. This guideline serves as instrumental reference for the standardized care of the Chinese SMA patients.

     

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