TY -的T1 -定量FSHD使用全身肌肉分析Fat-Referenced MRI JF -神经学乔-神经病学SP - e877 LP - e889做- 10.1212 / WNL。首页0000000000200757六世- 99 - 9每Widholm AU -米歇尔·l·Mellion盟盟-马库斯Karlsson盟-安德烈Ahlgren盟-拉比欧盟——凯瑟琳·r·瓦格纳盟——杰弗里·m·Statland AU -利奥王盟-佩里b Shieh盟Baziel通用货车Engelen盟Joost库尔AU -露西安Ronco盟Adefowope Odueyungbo AU -约翰蒋盟杰伊·j·汉盟-玛雅舱口AU -珍妮特陶尔康盟Olof Dahlqvist Leinhard AU -迭戈Cadavid Y1 - 2022/08/30 UR - //www.ez-admanager.com/content/99/9/e877.abstract N2 -背景和目标Facioscapulohumeral肌肉萎缩症(FSHD)是一种罕见的、衰弱的疾病,其特征是进行性肌无力。首页核磁共振是一个敏感的评估疾病严重程度和进展。我们开发了一个定量全身(WB)肌肉骨骼MRI (WB-MSK-MRI)协议分析肌肉全部。本研究旨在评估WB-MSK-MRI作为一个潜在的成像生物标志物提供可靠的测量肌肉健康捕捉疾病异质性和临床意义的综合评估关联与严重程度和更具响应性的改变在临床试验中。方法18 - 65岁的参与者,与基因FSHD1证实,临床严重程度2到4(里奇规模,范围0 - 5)和≥1短τ反演recovery-positive下肢肌肉针吸活组织检查合格,进入6个网站和成像两次4 - 12周。容量分析的肌肉脂肪浸润(MFI),肌肉脂肪分数(MFF)和肌肉体积(LMV) 18(36)从双边的肩膀肌肉,近端手臂,树干,和腿进行自动化atlas-based分割后,手动验证紧随其后。WB总分,包括肌肉发展的风险最高,与相关的功能和功能复合材料横截面相关结果包括定时去(拉),FSHD-TUG,并且可访问工作区(RWS),开发。结果17参与者参加本研究;16后续进行了核磁共振成像在52天(范围36 - 85天)。功能复合材料横截面(MFF和MFI)显示中度到强烈的相关性:拖轮(ρ= 0.71,ρ= 0.83),FSHD-TUG(ρ= 0.73,ρ= 0.73),和遥控武器站(左胳膊:ρ=−0.71,ρ=−0.53; right arm: ρ = −0.61, ρ = −0.65). WB composite variability: LMVtot, coefficient of variation (CV) 1.9% and 3.4%; MFFtot, within-subject SD (Sw) 0.5% and 1.5%; and MFItot (Sw), 0.3% and 0.4% for normal and intermediate muscles, respectively. CV and Sw were higher in intermediate (MFI ≥0.10; MFF <0.50) than in normal (MFI <0.10, MFF <0.50) muscles.Discussion We developed a WB-MSK-MRI protocol and composite measures that capture disease heterogeneity and assess muscle involvement as it correlates with FSHD-relevant clinical endpoints. Functional composites robustly correlate with functional assessments. Stability of the WB composite shows that it could be an assessment of change in therapeutic clinical trials.Classification of Evidence This study provides Class II evidence that quantitative WB-MSK-MRI findings associate with FSHD1 severity measured using established functional assessments.COA=clinical outcome assessment; CV=coefficient of variation; FSHD=facioscapulohumeral muscular dystrophy; LMV=lean muscle volume; MFF=muscle fat fraction; MFI=muscle fat infiltration; NMD=neuromuscular disorder; RSA=relative surface area; RWS=reachable workspace; SQI=signal quality issue; STIR=short tau inversion recovery; Sw=within-subject SD; TMV=total muscle volume; TUG=timed up and go; WB-MSK-MRI=whole-body musculoskeletal MRI ER -