Forty-five years of Duchenne muscular dystrophy in The Netherlands

J. C. van den Bergen*, H. B. Ginjaar, A. J. Van Essen, R. Pangalila, I. J.M. De Groot, P. J. Wijkstra, M. P. Zijnen, N. A.M. Cobben, M. J. Kampelmacher, B. H.A. Wokke, I. F.M. de Coo, J. M. Fock, A. M.C. Horemans, M. van Tol, E. Vroom, M. E.B. Rijlaarsdam, C. S.M. Straathof, E. H. Niks, J. J.G.M. Verschuuren

*Corresponding author for this work

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Abstract

Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ventilation. Objective: To present a detailed population based report of the DMD disease course in The Netherlands (1980–2006) and evaluate the effect of changes in care by comparing it with an historical Dutch DMD cohort (1961–1974). Methods: Information about DMD patients was gathered through the Dutch Dystrophinopathy Database using a standardized questionnaire and information from treating physicians. Results: The study population involved 336DMDpatients (70% of the estimated prevalence), of whom 285 were still alive. Mean age at disease milestones was: diagnosis 4.3 years, wheelchair dependence 9.7 years, scoliosis surgery 14 years, cardiomyopathy (fractional shortening <27%) 15 years, mechanical ventilation 17 years and death 19 years.Within our cohort, corticosteroid use was associated with an increased age of wheelchair dependence from 9.8 to 11.6 years (p < 0.001). When comparing the recent cohort to the historical cohort, mean survival improved from 17 to 27 years (p < 0.001). Conclusion: The current study gives detailed information about the disease course of DMD patients, provides evidence for the positive effect of steroid treatment and mechanical ventilation and supports the use of patient registries as a valuable resource for evaluating improvements in care.

Original languageEnglish
Pages (from-to)99-109
Number of pages11
JournalJournal of Neuromuscular Diseases
Volume1
Issue number1
DOIs
Publication statusPublished - 1-Jan-2014

Keywords

  • Corticosteroids
  • Duchenne muscular dystrophy
  • Mechanical home ventilation
  • Natural history
  • Survival

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