Motor function performance in individuals with RYR1-related myopathies

被引：8

作者：

Witherspoon, Jessica W. ^{[1
]}

Vuillerot, Carole ^{[2
,3
,4
]}

Vasavada, Ruhi P. ^{[5
]}

Waite, Melissa R. ^{[5
]}

Shelton, Monique ^{[1
]}

Chrismer, Irene C. ^{[1
]}

Jain, Minal S. ^{[5
]}

Meilleur, Katherine G. ^{[1
]}

机构：

[1] NINR, NIH, Bethesda, MD 20892 USA

[2] Hosp Civils Lyon, Hop Femme Mere Enfant, Escale, Serv Med Phys & Readaptat Pediat, F-69500 Bron, France

[3] Univ Lyon, F-69000 Lyon, France

[4] Univ Lyon 1, F-69100 Villeurbanne, France

[5] NIH, Rehabil Med, Bldg 10, Bethesda, MD 20892 USA

来源：

MUSCLE & NERVE | 2019年 / 60卷 / 01期

基金：

美国国家卫生研究院;

关键词：

disease progression; GFT; MFM; motor function; RYR1; DUCHENNE MUSCULAR-DYSTROPHY; CONGENITAL MYOPATHIES; RYR1;

D O I：

10.1002/mus.26491

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction The objective of this study was to obtain a 6-month natural history of motor function performance in individuals with RYR1- related myopathy (RYR1-RM) by using the Motor Function Measure-32 (MFM-32) and graded functional tests (GFT) while facilitating preparation for interventional trials. Methods In total, 34 participants completed the MFM-32 and GFTs at baseline and 6-month visits. Results Motor deficits according to MFM-32 were primarily observed in the standing and transfers domain (D1; mean 71%). Among the GFTs, participants required the most time to ascend/descend stairs (>7.5 s). Functional movement, determined by GFT grades, was strongly correlated with MFM-32 (D1; r >= 0.770, P < 0.001). Motor Function Measure-32 and GFT scores did not reflect any change in performance between baseline and 6-month visits. Discussion The MFM-32 and GFTs detected motor impairment in RYR1-RM, which remained stable over 6 months. Thus, these measures may be suitable for assessing change in motor function in response to therapeutic intervention. Muscle Nerve 60: 80-87, 2019

引用

页码：80 / 87

页数：8

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