Duchenne muscular dystrophy (DMD) is a rare, severe progressive X-linked muscle disease with an estimated incidence of 1:5000 live male births. Due to the absence of functional dystrophin protein, incessant contraction induced muscle damage takes place. Most patients require a wheelchair by the teenage years and may ultimately develop cardiomyopathy and breathing problems resulting in premature death. Since dystrophin is also functional in brain, patients could suffer from learning and behavioral problems as well.
Becker muscular dystrophy (BMD) is also caused by mutation in the dystrophin gene. But in this case the mutation leads to a shortened and still partly functional dystrophin protein. Therefore, the symptoms in general are milder, with a later age of onset and slower progression as compared to DMD patients.
Currently there is no cure for DMD and BMD. But due to improvements in health care practice, boys with DMD nowadays live longer. Besides vaccination and antibiotics, mainly the use of corticosteroids, the possibilities of respiratory support and orthopedic interventions contribute significantly.
The Pearl Duchenne & Becker is an initiative of the Duchenne Center Netherlands (DCN). DCN is a collaboration of LUMC, Radboudumc and Kempenhaeghe-MUMC +, the patient organization Duchenne Parent Project (DPP) and patient association Spierziekten Nederland (SN). Within the Pearl Duchenne & Becker, DCN cooperates with the four other academic centers (Amsterdam UMC, Erasmus MC, UMC Groningen and UMC Utrecht) and the four Dutch Centers for Home Ventilation (CTB). The aim of this Pearl is to link optimal care for patients with DMD and BMD in the Netherlands to standardized data collection for research.
Both children and adults with DMD are seen at least once a year in one of the above mentioned UMCs by a multidisciplinary team. In addition to outpatient care, the CTBs also see and examine the patients in their home situation. By standardization of all these measurements and by offering patients the possibility to donate additional blood and urine during their visit, we expect to gain more insight into factors that determine the variation of the disease course. This knowledge is crucial for the improvement of care and to conduct and assess therapies.