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Motor function performance in individuals with RYR1 ‐related myopathies
Author(s) -
Witherspoon Jessica W.,
Vuillerot Carole,
Vasavada Ruhi P.,
Waite Melissa R.,
Shelton Monique,
Chrismer Irene C.,
Jain Minal S.,
Meilleur Katherine G.
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26491
Subject(s) - physical medicine and rehabilitation , motor function , medicine , ryr1 , physical therapy , ryanodine receptor , calcium
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