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Updated: Feb 15, 2026
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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
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Facioscapulohumeral muscular dystrophy functional composite outcome measure
Katy Eichinger1, Chad Heatwole1, Stanley Iyadurai2
1Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 673 Rochester, New York, 14642, USA.
Muscle & Nerve
|January 31, 2018
Summary
A new functional outcome measure for facioscapulohumeral muscular dystrophy (FSHD) called FSHD-COM shows high reliability. This tool is suitable for assessing patients in future clinical trials.
Area of Science:
- Neurology
- Clinical Trials
- Muscular Dystrophy Research
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) requires reliable outcome measures for clinical trials.
- Patient-identified functional burdens are crucial for developing relevant assessments.
Purpose of the Study:
- To develop and validate the evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM).
- To assess the reliability and validity of the FSHD-COM for use in future FSHD clinical trials.
Main Methods:
- A prospective observational study involving 41 FSHD patients across two sites.
- The FSHD-COM assessed functional status in legs, shoulders, arms, trunk, hands, and balance/mobility.
- Test-retest reliability and convergent validity against established FSHD metrics were evaluated.
Main Results:
- The FSHD-COM demonstrated excellent test-retest reliability (ICC=0.96; subscales 0.90-0.94).
- Moderate to strong associations were found between FSHD-COM and disease duration, clinical severity, and strength (r=0.51-0.92).
Conclusions:
- The FSHD-COM is a disease-relevant, functional composite outcome measure.
- It exhibits excellent reliability and cross-sectional associations, making it suitable for FSHD clinical trials.
- Future research should focus on multisite reliability, sensitivity to change, and minimal clinically important change.
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