文摘
摘要目的:确定的频率和相对重要性症状患者所经历的脊髓和延髓的肌萎缩症(SBMA)和识别可变因素对症状的严重程度具有最大的影响
背景:SBMA是一种遗传性运动神经元疾病CAG-repeat扩张引起的雄激素受体基因位于X染色体上。疾病发生和发展的变化被观察到。评价疾病负担的重要评估候选疗法的疗效和对监管部门的批准可能有用。此外,疾病负担的评价提供了有价值的信息,改善病人护理
设计/方法:我们进行了一次国际232 SBMA患者的横断面研究。参与者提供输入关于18主题和208影响SBMA病人的症状。参与者被问及每个症状的相对重要性,并且分析是为了确定年龄、教育、疾病持续时间,CAG重复长度和移动状态与症状患病率
结果:臀部、大腿或膝盖无力(96.5%)、疲劳(96.5%)、手和手指的问题(95.8%),和局限性与行走主题,研究人群的患病率高。动态状态与9的14个主题有关,和CAG重复长度和教育都与4 14个主题相关。疲劳的患病率减少在这些较低的CAG重复长度和增加疾病持续时间更长。年轻的病人报告更高的患病率的情感问题
结论:有主题的多样性对SBMA患者很重要。这些主题有一个变量重要性水平SBMA人口和代表因素评估在未来治疗干预措施
披露:Alqahtani博士没有披露。安吉拉Kokkinis没有披露。Nuran Dilek没有披露。Fischbeck博士接到研究所/国家卫生研究院的研究支持。Fischbeck博士收到发现或技术知识产权利益有关卫生保健。Fischbeck博士作为科学审查委员会成员关系non-compensated河畔与肯尼迪的疾病协会相关利益或活动。Fischbeck博士non-compensated关系与法语协会科学委员会成员反对肌病河畔相关利益或活动。Fischbeck博士作为独立审查委员会成员关系non-compensated河畔与目标肌萎缩性侧索硬化症相关利益或活动。博士Fischbeck关系non-compensated科学顾问委员会成员,与诺华相关的肌肉骨骼疾病,感染利益或活动。博士Fischbeck关系non-compensated高级临床顾问n-Lorem河畔相关利益或活动的基础。 Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Committee member with Stanford GNE myopathy program that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Hereditary Disease Foundation that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Packard Center for ALS Research that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Huntington’s Disease Society of America that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a TACT review panel member with TREAT-NMD that is relevant to AAN interests or activities. Dr. Heatwole has received personal compensation for serving as an employee of Legal Med. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for IRIS. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takeda. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pennsylvania Prop and Gas Ins. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for cytokinetics. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for scholar rock. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for swan bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Legal Med. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from Recursion. The institution of Dr. Heatwole has received research support from MDA. The institution of Dr. Heatwole has received research support from PPMD. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from Curesma. The institution of Dr. Heatwole has received research support from ALSA. The institution of Dr. Heatwole has received research support from Huntington Study Group. The institution of Dr. Heatwole has received research support from department of defence. The institution of Dr. Heatwole has received research support from swan bio. The institution of Dr. Heatwole has received research support from Parent project. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care. Dr. Grunseich has nothing to disclose.
