Opinion|Videos|June 11, 2025

The Impact of Dystrophin Levels on Duchenne Muscular Dystrophy Progression

Author(s)Jeffrey Chamberlain, PhD

A panelist discusses how even very small amounts of dystrophin (as low as 1%) may slow disease progression in skeletal muscles, although the impact on cardiac and respiratory function remains less clear.

Clinical Brief: Dystrophin Threshold Effects on Disease Progression

Main Discussion Topics

Historical understanding of dystrophin threshold effects compared to emerging evidence
Impact of trace dystrophin amounts (1-2%) on skeletal muscle function
Limited data on threshold effects in cardiac and respiratory muscles
Advances in protein detection methods enabling quantification of very low dystrophin levels

Key Points for Physicians

Previously established threshold of 15-20% normal dystrophin for milder phenotype
Emerging evidence suggests even 1% of normal dystrophin can moderately slow progression
Improved diagnostic methods now detect dystrophin levels as low as 0.5%
Correlation between skeletal muscle dystrophin and cardiac/respiratory benefit remains unclear

Notable Insights

The relationship between dystrophin levels and clinical outcomes appears more graduated than previously understood. Trace amounts of dystrophin previously undetectable with older techniques may explain some variability in disease progression among patients with similar mutations.

Clinical Significance

The recognition that even minimal dystrophin expression provides measurable clinical benefit has significant implications for therapeutic approaches, suggesting modest increases through genetic interventions may yield meaningful functional improvements.

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