Bendixen Roxanna M, Butrum Jocelyn, Jain Mina S, Parks Rebecca, Hodsdon Bonnie, Nichols Carmel, Hsia Michelle, Nelson Leslie, Keller Katherine C, McGuire Michelle, Elliott Jeffrey S, Linton Melody M, Arveson Irene C, Tounkara Fatou, Vasavada Ruhi, Harnett Elizabeth, Punjabi Monal, Donkervoort Sandra, Dastgir Jahannaz, Leach Meganne E, Rutkowski Anne, Waite Melissa, Collins James, Bönnemann Carsten G, Meilleur Katherine G
Department of Occupational Therapy, University of Pittsburgh, 5020 Forbes Tower, Pittsburgh, PA 15260, USA.
Howard County General Hospital, Columbia, MD, USA.
Neuromuscul Disord. 2017 Mar;27(3):278-285. doi: 10.1016/j.nmd.2016.11.017. Epub 2016 Dec 5.
Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials. For this cross-sectional study, 42 participants were assessed over the same 2-5 day period at the National Institutes of Health Clinical Center. All upper extremity measures were correlated with the Motor Function Measure 32 (MFM32). The battery of upper extremity assessments included the Jebsen Taylor Hand Function Test, Quality of Upper Extremity Skills Test (QUEST), hand held dynamometry, goniometry, and MyoSet Tools. Spearman Rho was used for correlations to the MFM32. Pearson was performed to correlate the Jebsen, QUEST, hand-held dynamometry, goniometry and the MyoSet Tools. Correlations were considered significant at the 0.01 level (2-tailed). Significant correlations were found between both the MFM32 and MFM Dimension 3 only (Distal Motor function) and the Jebsen, QUEST, MyoGrip and MyoPinch, elbow flexion/extension ROM and myometry. Additional correlations between the assessments are reported. The Jebsen, the Grasp and Dissociated Movements domains of the QUEST, the MyoGrip and the MyoPinch tools, as well as elbow ROM and myometry were determined to be valid and feasible in this population, provided variation in test items, and assessed a range of difficulty in CMD. To move forward, it will be of utmost importance to determine whether these upper extremity measures are reproducible and sensitive to change over time.
先天性肌营养不良（CMD）是一组罕见的遗传性肌肉疾病，在出生时或婴儿早期出现。CMD的两种常见亚型是与胶原蛋白VI相关的肌营养不良（COL6-RD）和与层粘连蛋白α2相关的肌营养不良（LAMA2-RD）。CMD的传统结局指标包括粗大运动和活动能力评估，但显著的运动功能下降突出表明需要有效的上肢运动评估作为临床终点。本研究验证了一系列用于这两种CMD亚型的上肢测量指标，以供未来的临床试验使用。在这项横断面研究中，42名参与者在美国国立卫生研究院临床中心的同一2至5天内接受了评估。所有上肢测量指标均与运动功能测量32（MFM32）相关。上肢评估指标包括Jebsen Taylor手功能测试、上肢技能质量测试（QUEST）、手持测力计、角度测量和MyoSet工具。使用Spearman Rho进行与MFM32的相关性分析。进行Pearson分析以关联Jebsen、QUEST、手持测力计、角度测量和MyoSet工具。相关性在0.01水平（双侧）被认为具有显著性。仅在MFM32和MFM维度3（远端运动功能）与Jebsen、QUEST、MyoGrip和MyoPinch、肘关节屈伸活动度和肌力测量之间发现了显著相关性。报告了评估之间的其他相关性。Jebsen、QUEST的抓握和分离运动领域、MyoGrip和MyoPinch工具，以及肘关节活动度和肌力测量在该人群中被确定为有效且可行，并提供了测试项目的变化，且评估了CMD中的一系列难度。为了取得进展，确定这些上肢测量指标是否可重复以及是否对随时间的变化敏感将至关重要。
