Motor Function Performance in Individuals with RYR1-Related Myopathies
April 16, 2019
Motor Function Performance in Individuals with RYR1-Related Myopathies

Authors: Jessica W. Witherspoon, PhD, DPT, Carole Vuillerot, PhD, MD, Ruhi P. Vasavada, BS, Melissa R. Waite, MSPT, Monique Shelton, BS, Irene C. Chrismer, RN, BSN, Minal S. Jain, PT, DSc and Katherine H. Meilleur, PPCNP-BC


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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.

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