Motor function performance in individuals with RYR1-related myopathies.

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

SUBMITTER: Witherspoon JW 

PROVIDER: S-EPMC6619391 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature