Motor function performance in individuals with RYR1-related myopathies.
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ABSTRACT: 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.
SUBMITTER: Witherspoon JW
PROVIDER: S-EPMC6619391 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
Motor function performance in individuals with RYR1-related myopathies.
Witherspoon Jessica W JW Vuillerot Carole C Vasavada Ruhi P RP Waite Melissa R MR Shelton Monique M Chrismer Irene C IC Jain Minal S MS Meilleur Katherine G KG
Muscle & nerve 20190701 1
<h4>Introduction</h4>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.<h4>Methods</h4>In total, 34 participants completed the MFM-32 and GFTs at baseline and 6-month visits.<h4>Results</h4>Motor deficits according to MFM-32 were primarily observed in the stan ...[more]
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