RT期刊文章SR电子T1纵向变化措施COL6-related营养不良的临床结果和LAMA2-related营养不良摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP e1932 OP e1943 10.1212 / WNL。首页93签证官0000000000008517是21 A1纯矿物s . Jain A1凯瑟琳最佳A1 Eunhee金正日A1吉娜Norato A1梅丽莎·韦特A1莱斯利·纳尔逊A1米歇尔·麦奎尔A1蒂娜Duong A1凯瑟琳·凯勒A1多诺万·j·洛特A1艾伦Glanzman A1克里斯蒂玫瑰A1马里昂主要A1考特尼不快A1艾琳圣油A1旋律林惇A1虹雉旁遮普A1杰弗里·艾略特A1订货Tounkara A1 Ruhi Vasavada A1作者Logaraj A1乔斯林Winkert A1桑德拉Donkervoort A1 Meganne Leach A1 Jahannaz Dastgir A1琳达Hynan A1卡梅尔尼科尔斯A1伊丽莎白Hartnett A1吉尔伯托·m·Averion A1詹姆斯·c·柯林斯A1尤妮斯·金A1安吉拉Kokkinis A1爱丽丝辛德勒A1克里斯汀Zukosky A1罗伯特·费A1维罗妮卡辛顿A1 Payam Mohassel A1戴安娜Bharucha-Goebel A1卡罗尔Vuillerot A1彼得McGraw A1马克巴顿A1约瑟夫·丰塔纳A1安妮资助A1。Reghan Foley A1 Carsten g . Bonnemann是年2019 UL http://n.n首页eurology.org/content/93/21/e1932.abstract AB目标识别的变化率在儿童临床结果措施两种类型的先天性肌肉萎缩症(CMD), COL6-related营养不良(COL6-RDs)和LAMA2-related营养不良(LAMA2-RDs)。方法在过去的4年,47人(23与LAMA2-RD COL6-RD和24)4 - 22岁。评估包括运动功能测量32 (MFM32) myometry(膝关节屈肌和扩展时,肘部屈肌和两种),测角术(膝盖和肘部扩展),肺功能测试,和生活质量的措施。独立线性mixed-effects为每个结果的测量模型,与科目的随机拦截。结果总得分MFM32 COL6-RDs和LAMA2-RDs下降的速度4.01和2.60点,每年分别(p < 0.01)。所有肌肉群除了肘屈肌为个人COL6-RDs之间的强度下降1.70% (p < 0.05)和2.55% (p < 0.01)。关节活动度测量下降了3.21°(p < 0.05),左肘在患者每年LAMA2-RDs和2.35°(p < 0.01)每年在右膝的扩展与COL6-RDs个人。肺功能显示每年坐在用力肺活量下降百分比3.03%的预测在COL6-RDs患者(p < 0.01)。没有显著改变生活质量的措施进行了分析。Conclusion Results of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs.BiPAP=bilevel positive airway pressure; CMD=congenital muscular dystrophy; COL6-RD=COL6-related dystrophy; FVCpp=forced vital capacity percent predicted; LAMA2-RD=LAMA2-related dystrophy; MFM32=Motor Function Measure 32; PedsQL=Pediatric Quality of Life Inventory; PFT=pulmonary function test; UCMD=Ullrich congenital muscular dystrophy