Duchenne muscular dystrophy: recent insights in brain related comorbidities

Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen (), Konstantina Tetorou, Aurelie Goyenvalle () and Francesco Muntoni ()
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Cyrille Vaillend: Institut des Neurosciences Paris-Saclay
Yoshitsugu Aoki: National Center of Neurology and Psychiatry (NCNP)
Eugenio Mercuri: Catholic University
Jos Hendriksen: School for Mental Health and Neuroscience
Konstantina Tetorou: University College London Great Ormond Street Institute of Child Health
Aurelie Goyenvalle: END-ICAP
Francesco Muntoni: University College London Great Ormond Street Institute of Child Health

Nature Communications, 2025, vol. 16, issue 1, 1-12

Abstract: Abstract Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.

Date: 2025
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DOI: 10.1038/s41467-025-56644-w

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