TY -的T1 - 1型肌强直性营养不良疾病进展在non-interventional多中心研究(S22.004) JF -神经学乔-神经学六世- 90 - 15补充SP - S22.004 AU - Ami Mankodi AU -杰弗里Statl首页and AU -凯特Eichinger盟珍妮Dekdebrun AU -约翰天盟Subramony AU -约翰Kissel盟Tetsuo Ashizawa AU -查尔斯•桑顿A2 - Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/S22.004.abstract N2 -目的:确定反应的临床结果评估疾病进展在肌强直性营养不良患者1年1型(DM1)。背景:作为DM1推进临床试验有针对性的治疗,是一个紧迫的需要自然历史数据来评估疾病进展和临床端点在多中心上下文中。设计/方法:我们进行了一项前瞻性12个月研究动态成年患者非先天性DM1 6网站。措施包括定量肌肉测试结果(QMT 7双边肌肉规范化为性别比例预测,年龄和身高),人工肌肉测试(MMT, 15的肌肉),timed-function测试、用力肺活量(FVC)和视频手柄打开的时间。结果:113名患者,95年完成1年随访(保留84%,59%的女性;平均年龄43年;19 - 67岁)。复合总上,开始下肢(LE) QMT强度得分在1年平均下降6.4% (p = .014), 4.7% (p = .002)和3.5%的基线值。总的来说,男性表现出更大的力量下降比女性在大多数肌肉群包括手柄(vs−−9% 2%;p & lt; . 05)和踝关节背屈(vs−−13%。1%,术中;. 05)。仰卧的% FVC显示值下降4% (p & lt;措施),而没有改变被坐在FVC。中位数时间30英尺和下4-stairs增加(p = . 01)。 Changes in %FVC correlated with %changes in composite total muscle strength (r=.3; p=.005), and change in descend 4-stairs correlated with % changes in LE strength (r=−.32; p=.003).Conclusions: There was a measurable decrease in motor function that was most pronounced for muscles preferentially affected by DM1. Gender may have an impact on disease severity and should be considered in DM1 trial design. There was significant decline of supine but not seated FVC, consistent with known involvement of diaphragm.Study Supported by:NIH NS048843 (Wellstone Center), NIH Intramuscular Research Program, Muscular Dystrophy Association, Myotonic Dystrophy Foundation, Marigold Foundation, BiogenDisclosure: Dr. Mankodi has nothing to disclose. Dr. Statland has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Strongbridge, Acceleron, Regeneron, and Sanofi. Dr. Eichinger has nothing to disclose. Dr. Dekdebrun has nothing to disclose. Dr. Day has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with AMO, Audentes, AveXis, Biogen, Cytokinetics, Pfizer, Santhera, Sarepta. Dr. Subramony has nothing to disclose. Dr. Kissel has received research support from Novartis, Biomarin, Cytokinetics, CSL Behring, Avexis, Ionis Pharmaceuticals, Quintiles, Axelacare. Dr. Ashizawa has nothing to disclose. Dr. Thornton has nothing to disclose. Dr. Myotonic Dystrophy Research Ne has nothing to disclose. ER -