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Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. We also compare the UK experience of adult care with the care available to pediatric patients(More)
BACKGROUND Rare diseases pose many research challenges specific to their scarcity. Advances in potential therapies have made it more important than ever to be able to adequately identify not only patients with particular genotypes (via patient registries) but also the medical professionals who provide care for them at particular specialist centres of(More)
Digital technologies offer the possibility of community empowerment via the reconfiguration of public services. This potential relies on actively involved citizens engaging with decision makers to pursue civic goals. In this paper we study one such group of involved citizens, examining the evidencing practices of a rare disease charity campaigning for(More)
Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid(More)
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy, affecting 1 in 3500 live male births. Mutations in the X chromosome result in an absence of dystrophin, causing progressive muscle degeneration and loss of ambulation by the early teens with respiratory, orthopaedic and cardiac complications. Without intervention these(More)
Rare diseases pose many challenges. A paucity of rando-mised controlled trials for most conditions means that best-practice care guidelines are often non-existent or poorly developed. Where they exist, healthcare professionals may be unaware of them. Furthermore, evaluation of guidelines is difficult, as traditional methods of health-care research (such as(More)
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