TY - T1的以人群为基础的生存分析摩根富林明脊肌萎缩症——神经学乔-神经病学SP - e1634 LP - - 10.1212 / WNL e1644做。首页0000000000009248六世- 94 a - 15盟卡Wijngaarde AU -玛洛史丹AU -路易斯点奥托盟鲁本P.A. van Eijk AU -英奇Cuppen盟以斯帖美国如今非盟-伦纳德·h . van den Berg盟Renske i Wadman盟——w·罗朵范德堡尔Y1 - 2020/04/14 UR - //www.ez-admanager.com/content/94/15/e1634.abstract N2 -目的探讨生存的概率及其代理,即患者机械通气,脊髓性肌萎缩(SMA)。首页我们生存在以人群为基础的队列研究方法的临床流行基因证实,SMA患者首次治疗,分层最佳(即获得电动机里程碑。没有:1型a / b;头控制在仰卧位或滚动:类型1 c;坐在独立:2型;站:2 b型;行走:3 a / b型;成人发病:type 4)。我们也评估需要机械通气作为代理端点为生存。结果包括307例随访共7141人每年。中位数生存在SMA类型1 9天,7.7个月1 b型,和17.0年1型c。2型患者有endpoint-free生存概率74.2%和61.5%在40到60岁,分别。Endpoint-free SMA的生存类型2 b 3和4是相对正常,至少在生命的前60年。 Patients with SMA types 1c and 2a required mechanical ventilation more frequently and from younger ages compared to patients with milder SMA types. In our cohort, patients ventilated up to 12 h/d progressed not gradually, but abruptly, to ≥16 h/d.Conclusions Shortened endpoint-free survival is an important characteristic of SMA types 1 and 2a, but not types 2b, 3, and 4. For SMA types 1c and 2a, the age at which initiation of mechanical ventilation is necessary may be a more suitable endpoint than the arbitrarily set 16 h/d.CI=confidence interval; KM=Kaplan-Meier; MLPA=multiplex ligation-dependent probe amplification; SMA=spinal muscular atrophy ER -