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 Muscular Dystrophy (DMD) is a condition that knows no borders, with an estimated incidence of 1 in 5,000 male newborns worldwide. In 2023, the Dutch Dystrophinopathy Database (DDD) registered 524 individuals with DMD, including 44 females carrying a pathogenic variant in the DMD gene. Although girls are not typically affected, they can be carriers of the genetic mutation and may present symptoms of what is known as a dystrophinopathy.1-3
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.4
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.5–8
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
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.
Funds research, promotes awareness, and supports families affected by Duchenne muscular dystrophy, aiming for better treatment and ultimately a cure.
Spierziekten NederlandProvides information, advocacy, and peer support for people with neuromuscular diseases to improve quality of life and access to care.
Duchenne Centrum NederlandBrings together top clinical expertise and cutting-edge research to optimize care and accelerate the search for a cure for Duchenne muscular dystrophy.
Specifically focused on Duchenne muscular dystrophy, this site offers information about the disease, treatments, research, and support for affected families.
Duchenne Data FoundationDDF brings together all sources of data related to dystrophinopathies, to make an impact for the global DMD community.
EURO-NMDEuropean Reference Network for Neuromuscular Diseases.
EURORDIS (Rare Diseases Europe)Working to improve the quality of life for people living with rare diseases in Europe. It offers educational resources, participation opportunities, and community support.
Rare Diseases International (RDI)Rare Diseases International is the global alliance of people living with a rare disease of all nationalities across all rare diseases.
World Duchenne OrganisationThe 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.
