Neuropediatrics 2013; 44 - FV16_03
DOI: 10.1055/s-0033-1337747

Current care practice in Duchenne muscular dystrophy in Europe – results of the CARE-NMD cross-sectional survey

J Vry 1, K Gramsch 1, K Bushby 2, H Lochmüller 2, S Rodger 2, B Steffensen 3, J Rahbek 3, J Kirschner 1
  • 1Universitätsklinikum Freiburg, Zentrum für Kinder- und Jugendmedizin, Freiburg, Germany
  • 2Newcastle University, Institute of Human Genetics, Newcastle upon Tyne, United Kingdom
  • 3The National Rehabilitation Centre, for Neuromuscular Diseases, Arhus, Denmark

Aims: Although international consensus guidelines exist for multidisciplinary care for patients with Duchenne muscular dystrophy (DMD), their level of implementation and impact on health outcomes remains unclear. The aim of this cross-sectional survey, performed within the EU-funded CARE-NMD project, was to analyze the current care situation of DMD patients in Bulgaria, the Czech Republic, Denmark, Germany, Hungary, Poland, and the United Kingdom.

Methods: About 1677 questionnaires, translated into each local language, were distributed to all DMD patients registered in national patient registries. The questionnaire contained 42 questions on current functional status, diagnosis, treatment, and social issues.

Results: About 1180 questionnaires were returned, out of which 1071 were evaluated. Mean patient age was 13.1 years (range, 0.8 to 46.2 years), mean age at diagnosis 4.3 years and mean age at loss of ambulation 10.4 years. Kaplan-Meier analysis revealed a significant difference in age at loss of ambulation between steroid-naives (40%) and current or past users, and that age at loss of ambulation had increased significantly over the past decades. About 67% of patients attending a neuromuscular center (NMC) received steroids, while of those who did not, 37% received steroids. Patients who regularly attended a NMC (79%) were more satisfied with their overall medical treatment compared with those who did not (85% vs. 51%). Approximately 73% had regular physiotherapy, but with notable differences between countries. Only 8 out of 35 patients with a known forced vital capacity of less than 20% of the norm received mechanical ventilation.

Conclusion: This is the largest cross-sectional study ever performed in DMD patients. It reveals that many do not receive the recommended treatment with physiotherapy, assisted ventilation and steroids, the latter being significantly correlated with prolonged ambulation. Our results indicate that patients seen at NMC receive care according to the guidelines. Improved outcomes in recent decades indicate the benefit of current symptomatic treatment approaches.