Events involved in Duchenne muscular dystrophy
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Duchenne muscular dystrophy (DMD) is a rare, rapidly progressive, lethal neuromuscular disorder, which occurs almost exclusively in males due to its X-linked recessive genetic pattern. In the UK, about 100 boys are born with DMD each year, and there are about 1154 people living with the condition in the UK at any one time.1,2
The first symptoms become apparent around 2-3 years, showing signs of clumsiness, and difficulties with stair climbing or toe walking.3,4 Muscle weakness, creatine kinase elevation, and motor or global developmental delay may be additional presentations.3-5
Loss of ambulation (LoA) occurs at approx. 10-12 years.6 After LoA, scoliosis and muscular contractures rapidly develop. Involvement of the respiratory muscles (including the diaphragm) leads to progressive respiratory insufficiency with a need for assisted ventilation at around 20 years. While the average life expectancy of patients with DMD has increased overtime, only a few individuals survive beyond the third decade mainly due to respiratory insufficiency or cardiomyopathy.3,4,7
Etiology
Pathophysiology
1
DAPC disassembly
2
HDAC upregulation
3
Mitochondrial dysfunction
4
Chronic inflammation
5
FAP disruption
6
Myogenesis inhibition
Explore the explanations and short videos depicting each of the different stages of pathological events.
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DAPC: dystrophin-associated protein complex, HDAC: Histone Deacetylase, FAP: fibroadipogenic progenitors
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References
- Crisafulli S, Sultana J, Fontana A, et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):141.
- Matthew Brooke et al. Collection of real-world data for Duchenne Muscular Dystrophy patients through a national registry: description of the current cohort in the UK. Poster P608 presented at World Muscle Society Annual Congress, 2024, Prague, Czech Republic.
- Guiraud S, Chen H, Burns DT, et al. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Exp Physiol. 2015;100(12):1458-67.
- Van Ruiten H, Bushby K, Guglieri M. State-of-the-art advances in Duchenne muscular dystrophy. EMJ. 2017;2(1):90-9.
- Vaillend C, Aoki Y, Mercuri E, et al. Duchenne muscular dystrophy: recent insights in brain related comorbidities. Nat Commun. 2025;16(1):1298.
- Nallamilli BRR, Chaubey A, Valencia CA, et al. A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing. Hum Mutat. 2021;42(5):626-38.
- Duan D, Goemans N, Takeda S, et al. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7(1):13.
- Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-67.
- Bladen CL, Salgado D, Monges S, et al. The TREAT- NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36(4):395-402.
- Min YL, Bassel-Duby R, Olson EN. CRISPR Correction of Duchenne Muscular Dystrophy. Annu Rev Med. 2019;70:239-55.
- Fratter C, Dalgleish R, Allen SK, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet. 2020;28(9):1141–59.
- Constantin B. Dystrophin functions as a scaffold protein for signalling proteins. Biochim Biophys Acta. 2014;1838(2):635-642.
- Ervasti and Campbell. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 1993;122(4):809-23.
- Ohlendieck and Swandulla. Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy. Eur J Phys. 2022;473:1813-1839.
- Aartsma-Rus A. Histone deacetylase inhibition with givinostat: a multi-targeted mode of action with the potential to halt the pathological cascade of Duchenne muscular dystrophy. Front Cell Dev Biol. 2025;12:1514898.
- Mozzetta C, Sartorelli V, Puri PL. HDAC inhibitors as pharmacological treatment for Duchenne muscular dystrophy: a discovery journey from bench to patients. Trends Mol Med. 2024;30(7):698.
- Sandonà M, Cavioli G, Renzini A, et al. Histone Deacetylases: Molecular Mechanisms and Therapeutic Implications for Muscular Dystrophies. Int J Mol Sci. 2023;24(5):4306.
Bround, M.J., Abay, E., Huo, J. et al. MCU-independent Ca2+ uptake mediates mitochondrial Ca2+ overload and necrotic cell death in a mouse model of Duchenne muscular dystrophy. Sci Rep 14, 6751 (2024).
- Núñez-Álvarez Y, Hurtado E, Muñoz M, et al. Loss of HDAC11 accelerates skeletal muscle regeneration in mice. FEBS J. 2021;288(4):1201-1223.
