National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
L'Escale, Service de Médecine Physique et de Réadaptation Pédiatrique, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, F-69500, Bron, France. Université de Lyon, F-69000, Lyon, France. Université Lyon 1, F-69100, Villeurbanne, France.
Muscle Nerve. 2019 Jul;60(1):80-87. doi: 10.1002/mus.26491.
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.
In total, 34 participants completed the MFM-32 and GFTs at baseline and 6-month visits.
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.
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.
本研究的目的是通过使用运动功能测量-32 （MFM-32）和分级功能测试（GFT）来获得 RYR1 相关肌病（RYR1-RM）个体 6 个月的运动功能表现自然史，同时为干预试验做准备。
共有 34 名参与者在基线和 6 个月访视时完成了 MFM-32 和 GFTs。
根据 MFM-32，运动缺陷主要出现在站立和转移域（D1；平均 71%）。在 GFT 中，参与者上下楼梯所需的时间最长（>7.5 秒）。由 GFT 等级确定的功能性运动与 MFM-32（D1；r≥0.770，P<0.001）呈强相关。MFM-32 和 GFT 评分均未反映出基线与 6 个月访视之间运动功能的任何变化。
MFM-32 和 GFTs 检测到 RYR1-RM 的运动障碍，6 个月内保持稳定。因此，这些措施可能适合评估治疗干预对运动功能的变化。肌肉神经 60:80-87,2019。
