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Updated: Mar 8, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy
Roxanna M Bendixen1, Jocelyn Butrum2, Mina S Jain3
1Department of Occupational Therapy, University of Pittsburgh, 5020 Forbes Tower, Pittsburgh, PA 15260, USA.
Insights
This study validated upper extremity measures for congenital muscular dystrophy (CMD) clinical trials. Key assessments like the Jebsen Taylor Hand Function Test and QUEST showed validity in patients with COL6-RD and LAMA2-RD.
Area of Science:
- Neurology
- Genetics
- Rehabilitation Medicine
Background:
- Congenital muscular dystrophy (CMD) is a rare genetic muscle disease affecting infants.
- Current outcome measures for CMD primarily focus on gross motor function, neglecting upper extremity capabilities.
- Validating upper extremity assessments is crucial for tracking disease progression and treatment efficacy in clinical trials for CMD subtypes like collagen VI-related (COL6-RD) and laminin alpha 2-related (LAMA2-RD) dystrophies.
Purpose of the Study:
- To validate a battery of upper extremity motor assessments for use in clinical trials involving patients with COL6-RD and LAMA2-RD.
- To determine the feasibility and reliability of specific upper extremity tests in individuals with CMD.
- To establish correlations between upper extremity measures and established functional scales like the Motor Function Measure 32 (MFM32).
Main Methods:
- A cross-sectional study involving 42 participants with CMD subtypes (COL6-RD, LAMA2-RD).
- Assessment of upper extremity function using the Jebsen Taylor Hand Function Test, Quality of Upper Extremity Skills Test (QUEST), hand-held dynamometry, goniometry, and MyoSet Tools.
- Statistical analysis using Spearman Rho and Pearson correlations to assess the relationship between upper extremity measures and the MFM32, with significance set at p<0.01.
Main Results:
- Significant correlations were observed between the MFM32 (particularly Dimension 3 - Distal Motor Function) and several upper extremity measures, including the Jebsen, QUEST, MyoGrip, MyoPinch, elbow range of motion (ROM), and myometry.
- The Jebsen, specific QUEST domains (Grasp, Dissociated Movements), MyoGrip, MyoPinch, elbow ROM, and myometry were identified as valid and feasible assessments for this population.
- These validated measures demonstrated variability in test items and assessed a range of functional difficulties in CMD patients.
Conclusions:
- A battery of upper extremity assessments, including the Jebsen, QUEST, MyoSet Tools, goniometry, and myometry, are valid and feasible for evaluating patients with COL6-RD and LAMA2-RD.
- These measures can capture a spectrum of upper limb function in CMD and are suitable for future clinical trial endpoints.
- Further research is required to confirm the reproducibility and sensitivity to change over time for these validated upper extremity measures in CMD.
Abstract:
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.
