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。
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.
作者
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
戴毅
崔丽英
张光宇
罗金梅
肖毅
崔旭蕾
陈唯韫
沈建雄
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;DAI Yi;CUI Liying(不详;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《罕见病研究》
2023年第2期231-255,共25页
Journal of Rare Diseases
基金
中央高水平医院临床科研业务费(2022-PUMCH-D-002)
中国医学科学院罕见病研究中心支持项目。
关键词
脊髓性肌萎缩症
诊断
多学科管理
疾病修正治疗
spinal muscular atrophy
diagnosis
multidisciplinary treatment
disease modifying therapy
