TY -的T1 - I型脊髓性肌萎缩症的观察性研究和影响神经病学临床试验JF -乔-神经病学SP - 810 LP - 817 - 10.1212 / WNL。首页0000000000000741六世- 83 - 9盟——理查德·s·芬克尔盟——迈克尔·p·麦克德莫特AU -佩特拉Kaufmann盟-罗勒t·德拉盟-温迪·k·钟盟——道格拉斯·m·Sproule盟——彼得·b·康盟——a . Reghan Foley盟——米歇尔·l·杨AU -威廉·b·马顿斯盟Maryam Oskoui AU -艾伦·m·Glanzman AU -吉恩·弗里金格盟杰奎琳·蒙特斯盟——莎莉Dunaway盟——杰西卡·O 'Hagen盟——珍妮特奎格利AU -苏珊Riley盟Maryjane本顿AU -帕特里夏·a . Ryan盟梅根·蒙哥马利盟-乔纳森·马拉AU -克利夫顿古奇盟Darryl c . De Vivo Y1 - 2014/08/26 UR - //www.ez-admanager.com/content/83/9/810.abstract N2 -目标:前瞻性队列研究的临床特征和课程描述I型脊髓性肌萎缩症(SMA-I)。首页方法:患者进入3研究地点和与串行临床随访36个月,运动机能,实验室,和电生理学的结果评估。护理干预是由出版标准的指导方针。姑息治疗选项了。结果:34 54合格受试者SMA-I(63%)登记和50%的完成至少12个月的随访。年龄中位数达到合并后的端点的死亡或需要至少16小时/天的通风支持是13.5个月(四分位范围8.1 - -22.0个月)。营养支持前通风要求的支持。年龄的分布与SMA-I达成合并后的端点是类似的主题有症状出现前3个月和后3个月的年龄(p = 0.58)。有2 SMN2副本与发病率和死亡率大于3份。基线电生理学的措施表示大量的运动神经元的损失。 By comparison, subjects with SMA-II who lost sitting ability (n = 10) had higher motor function, motor unit number estimate and compound motor action potential, longer survival, and later age when feeding or ventilation support was required. The mean rate of decline in The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders motor function scale was 1.27 points/year (95% confidence interval 0.21–2.33, p = 0.02).Conclusions: Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint. These outcome data can be used for clinical trial design.CHOP INTEND=The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders; CI=confidence interval; CMAP=compound motor action potential; IQR=interquartile range; MUNE=motor unit number estimate; SMA=spinal muscular atrophy; SMN1=survival of motor neuron 1, telomeric ER -