Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson and 9 others
PMID 40084496WHAT IT FOUND
Participants with Duchenne muscular dystrophy predicted to lack Dp140 had lower grip strength, pinch strength and respiratory function than participants predicted to retain Dp140.
Hand-tapping scores did not differ. This is an association, not proof that one cause explains the difference.
Key findings
01Across all age points, group 2 participants had lower mean grip strength %pred by 7.1 percentage points and lower mean pinch strength %pred by 9.2 percentage points than group 1 participants.
02Across all age points, group 2 participants had lower mean FVC %pred by 4.3 percentage points than group 1 participants.
03Mean MoviPlate scores did not differ significantly between isoform groups.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTs
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What it does not show
Follow-up length differed between data sources and some data were missing. FVC %pred was collected with different equipment at different sites, and technique was not centrally monitored. Some cohorts excluded participants with severe intellectual or cognitive impairment, so results may not apply to patients who cannot cooperate with assessment. Participants predicted to lose Dp427, Dp140, and Dp71 were excluded because too few had data. Group assignment relied on predicted mutation effects on dystrophin isoforms. Because this was natural history data, associations do not prove that corticosteroid exposure or isoform group caused the differences.
Declared interests
Several authors declared financial relationships with companies involved in neuromuscular disease treatments, including advisory boards, speaking fees, grants, consulting fees, or research funding. Jean-Yves Hogrel is a coinventor of the MyoGrip, MyoPinch, and MoviPlate devices, and Laurent Servais is a coinventor of the MoviPlate device. UCL received funding from Sarepta Therapeutics, Roche, Pfizer, Italfarmaco, and Santhera. The paper names ADNA as a funder, supported by OSEO.
The easy way to misread this
Do not read lower grip, pinch, or FVC scores as proof that Dp140 absence directly caused muscle or respiratory weakness. The study was natural history and reported associations, not a tested mechanism.
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