Related Experiment Video
Updated: Jan 26, 2026
07:59
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
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Motor function performance in individuals with RYR1-related myopathies
Jessica W Witherspoon1, Carole Vuillerot2, Ruhi P Vasavada3
1National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
Muscle & Nerve
|April 21, 2019
Summary
This study tracked motor function in RYR1-related myopathy (RYR1-RM) over six months using the Motor Function Measure-32 (MFM-32) and graded functional tests (GFT). Findings indicate motor deficits are stable, suggesting these tools can assess future therapeutic interventions.
Area of Science:
- Neurology
- Rare Diseases
- Clinical Trials
Background:
- RYR1-related myopathy (RYR1-RM) is a rare neuromuscular disorder.
- Understanding the natural history of motor function is crucial for developing effective treatments.
Purpose of the Study:
- To establish a 6-month natural history of motor function in RYR1-RM patients.
- To evaluate the suitability of the Motor Function Measure-32 (MFM-32) and graded functional tests (GFT) for interventional trials.
Main Methods:
- 34 participants with RYR1-RM completed MFM-32 and GFTs at baseline and 6 months.
- Data analysis focused on motor function deficits and correlations between assessment tools.
Main Results:
- Motor deficits were most prominent in the standing and transfers domain (D1) of the MFM-32.
- Stair ascent/descent time was a key indicator in GFTs.
- MFM-32 and GFT scores showed strong correlation (r ≥ 0.770, P < 0.001) but no significant change over 6 months.
Conclusions:
- The MFM-32 and GFTs effectively detect motor impairment in RYR1-RM.
- These measures demonstrate stability over a 6-month period.
- The MFM-32 and GFTs are suitable for assessing motor function changes in future RYR1-RM therapeutic trials.
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