Duchenne Muscular Dystrophy (Duchenne)

“We are proud to serve the rare diseases community, and honoured that we are able to contribute to the global mission to find new solutions for Duchenne”

Francesco De Santis, Chairman of ITALFARMACO

What is Duchenne?

Duchenne muscular dystrophy is a rare neuromuscular disorder, characterised by progressive muscle damage and weakness. It occurs almost exclusively in males due to its X-linked recessive genetic pattern. Duchenne is a condition that knows no borders with an estimated incidence of 1 in 5000 male newborns worldwide. Girls are not typically affected, but they can be carriers of the genetic mutation and can have what is known as a dystrophinopathy. ^{1, 2}

Duchenne is caused by mutations in the dystrophin gene resulting in an absence or non-functional dystrophin, a key structural protein protecting the muscle cells from repeated contraction-induced damage. ³

How does Duchenne affect the body?

For individuals with Duchenne, their muscles are under constant siege, vulnerable to damage from everyday activities. A normal healthy muscle can counteract muscle damage thanks to its inner capability to regenerate new muscle cells. However, the muscles of people affected by Duchenne are more susceptible to injury and their muscle regeneration is impaired. The body naturally tries to repair the damage, but continuous muscle fibre damage leads to chronic inflammation, and the muscle fibres are replaced by scaring (fibrous tissue) and fat deposits. Over time, the muscles lose their capability to regenerate and their ability to contract, resulting in loss of muscle mass and weakness. It can be a relentless battle that families and doctors face together. ^{4 – 7}

Living with Duchenne

Across the globe, from Europe to the United States and beyond, individuals from the Duchenne community share stories of resilience and hope:

“It’s good to remember that most Duchenne children are happy kids and most families do very well after the initial shock of the diagnosis.”

Elizabeth Vroom, World Duchenne Organization (UPPMD)
The diagnosis and management of Duchenne Muscular Dystrophy – A guide for Families

“Once we received a definitive diagnosis, we could finally name our struggle. Hope is always present because we work tirelessly day by day towards a future without Duchenne.”

Silvia Avila, President – Duchenne Parent Project (DDP) – Spain

“When the word Duchenne came into our lives, 10 years ago, it was a shock, I couldn’t even pronounce it. Slowly we realized that we could walk alongside each other, that there are ways forward in this coexistence thanks to a community of families ready to share experiences and to an international scientific community whose studies give hope.”

Mother of a Duchenne child, Parent Project – Italia

Duchenne Community

The community is united in enhancing the quality of life for families affected by Duchenne, with a focus on the needs of today and tomorrow. We aim to deliver exceptional research, therapeutic options and support, helping families along their Duchenne journey. In doing so, we focus our efforts on prioritising and fulfilling the most critical needs that remain unaddressed.

Addressing unmet needs

The treatment landscape is evolving, with research focusing on a variety of approaches, and major advances that are leading towards disease-modifying treatments. The promise of these new treatments offer hope for more patients living with Duchenne and is a step closer to addressing high unmet needs.

Support and collaboration

What makes the Duchenne community so extraordinary? It’s the unwavering desire to partner, share, and collaborate. This global perspective weaves together the shared experiences of those living with Duchenne, emphasising the commonalities in challenges, hopes, and the relentless pursuit of a better future for all affected by this condition.

Useful Links

The rare disease and Duchenne community focus on raising awareness and facilitating connections between families, providing resources related to education, research, and support services. Here are just a few regional and global patient organisations and charities where you will find further useful information and connections.

Specifically focused on Duchenne muscular dystrophy, this site offers information about the disease, treatments, research, and support for affected families.

DDF brings together all sources of data related to dystrophinopathies, to make an impact for the global DMD community.

European Reference Network for Neuromuscular Diseases.

Working to improve the quality of life for people living with rare diseases in Europe. It offers educational resources, participation opportunities, and community support.

Focused on uniting and supporting the rare disease community, their website includes patient stories, disease information, support resources, and opportunities to get involved.

Focuses on muscular diseases, including Duchenne muscular dystrophy. Their site provides information on diseases, resources for patients and families, and details about ongoing research.

Provides extensive information on a wide variety of rare diseases, including resources for patients, families, and researchers.

Fight to end Duchenne: they accelerate research, raise their voices to impact policy, demand optimal care for every single family, and strive to ensure access to approved therapies.

Rare Diseases International is the global alliance of people living with a rare disease of all nationalities across all rare diseases.

The World Duchenne Organization is a global umbrella organization of national patient organizations. Dedicated to finding a cure and viable treatments for DMD, promoting good standards of care, to inform parents and people living with the condition around the globe.

EU-DMD-24-00019.
Date of creation: June 2024

View References

1. Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79.

2. Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012;71(3):304-13.

3. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, 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.

4. Theret M, Rossi FMV, Contreras O. Evolving Roles of Muscle-Resident Fibro-Adipogenic Progenitors in Health, Regeneration, Neuromuscular Disorders, and Aging. Front Physiol. 2021;12:673404.

5. Giuliani G, Rosina M, Reggio A. Signaling pa thways regulating the fate of fibro/adipogenic progenitors (FAPs) in skeletal muscle regeneration and disease. FEBS J. 2022;289(21):6484-6517.

6. Lemos DR, Babaeijandaghi F, Low M, Chang CK, L ee ST, Fiore D, et al. Nilotinib reduces muscle fibrosis in chronic muscle injury by promoting TNF-mediated apoptosis of fibro/ adipogenic progenitors. Nat Med. 2015;21(7):786-94.

7. Chapman MA, Mukund K, Subramaniam S, Brenner D, Lieber RL. Three distinct cell populations express extracellular matrix proteins and increase in number during skeletal muscle fibrosis. Am J Physiol Cell Physiol. 2017;312(2):C131–43.