RT期刊文章SR电子T1以人群为基础的生存分析摩根富林明神经脊肌萎缩症神经学乔FD Lippincott Williams &威尔金斯SP e1634 OP e1644 10.1212 / WNL。首页94签证官0000000000009248 15 A1卡a Wijngaarde A1玛洛斯塔姆A1路易斯点奥托A1鲁本P.A. van Eijk A1英奇Cuppen A1以斯帖美国如今A1伦纳德h . van den Berg A1 Renske i Wadman A1 W。骰子游戏范德堡尔年2020 UL http://n.neurology.o首页rg/content/94/15/e1634.abstract AB的生存目的探讨概率及其代理,即患者机械通气,脊髓性肌萎缩(SMA)。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 survival of SMA types 2b, 3, and 4 was relatively normal, at least within the first 60 years of life. 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