Learn More
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we(More)
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000).(More)
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients. This paper presents a clear outline of the strategy to launch a global national registry. All patients diagnosed with one of the predefined 62(More)
This study aims to investigate the clinimetric properties of ACTIVLIM, a measure of activity limitations, when it is used in daily practice in a large nationwide representative cohort of patients with neuromuscular diseases. A cohort of 2986 patients was assessed at least once over 2 years in 6 national neuromuscular diseases reference centers. Successive(More)
  • 1