一项关于早发型 FSHD 运动功能的跨国研究。
A multinational study on motor function in early-onset FSHD.
机构信息
From the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
出版信息
Neurology. 2018 Apr 10;90(15):e1333-e1338. doi: 10.1212/WNL.0000000000005297. Epub 2018 Mar 14.
OBJECTIVES
To investigate motor function associations with age, sex, and repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age.
METHODS
We collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and repeats.
RESULTS
Among 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older enrollment age was associated with greater CSSs ( = 0.003). When adjusted for enrollment age, sex, and repeats, younger age at onset of facial weakness was associated with greater CSSs, slower velocities in timed function tests, and lower MMT scores ( < 0.05).
CONCLUSION
Significant clinical variability was observed in early-onset FSHD. Earlier age at onset of facial weakness was associated with greater disease severity. Longitudinal assessments are needed to determine the rate of disease progression in this population.
目的
研究运动功能与年龄、性别和重复数在早发型面肩肱型肌营养不良症（FSHD）1 型患者中的相关性，该定义为发病年龄在 10 岁之前。
方法
我们在 12 个国际合作神经肌肉研究组中心收集了标准化的运动评估，包括徒手肌力测试（MMT）、定量肌肉测试、功能运动评估和临床严重程度评分（CSSs）。为了测量相关性，我们使用线性回归模型，对性别、评估年龄、肌无力起始年龄和重复数进行了调整。
结果
在 52 名参与者中（60%为女性，平均年龄为 22.9 ± 14.7 岁），肩部和腹部肌肉的无力最为明显。入组年龄较大与 CSSs 评分较高有关（=0.003）。在校正入组年龄、性别和重复数后，面部肌无力起始年龄较小与 CSSs 评分较高、定时功能测试速度较慢以及 MMT 评分较低相关（<0.05）。
结论
在早发型 FSHD 中观察到显著的临床变异性。面部肌无力起始年龄越早，疾病严重程度越高。需要进行纵向评估，以确定该人群的疾病进展速度。
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