“We are proud to serve the UK rare diseases community and play our part in the mission to find new solutions for Duchenne Muscular Dystrophy”
Duchenne 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.
In the UK, about 100 boys are born with Duchenne each year, and there are about 1154 people living with the condition in the UK at any one time. Girls are not typically affected, but they can be carriers of the genetic mutation and can have 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
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 scarring (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
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 UK and global patient organisations and charities where you will find further useful information and connections.
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. 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.
3. 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.
4. 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.
5. 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.
6. Giuliani G, Rosina M, Reggio A. Signaling pathways regulating the fate of fibro/adipogenic progenitors (FAPs) in skeletal muscle regeneration and disease. FEBS J. 2022;289(21):6484-6517.
7. 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.
8. 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.