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Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands

Article type: Research Article

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

Affiliations: Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands | Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands | Rijndam Rehabilitation Center, Rotterdam, The Netherlands | Department of Rehabilitation, Radboud University Medical Center, Nijmegen, The Netherlands | Department of Pulmonology/Center for Home Mechanical Ventilation, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands | Department of Intensive Care/Center for Home Mechanical Ventilation, University Medical Center, Erasmus Medical Center, Rotterdam, The Netherlands | Department of Pulmonology/Center for Home Mechanical Ventilation, Maastricht University Medical Center, Maastricht, The Netherlands | Center for Home Mechanical Ventilation, University Medical Center Utrecht, Utrecht, The Netherlands | Department of Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands | Department of Child Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands | Dutch Association for Neuromuscular Diseases, Baarn, The Netherlands | Department of Rehabilitation, University Medical Center Utrecht, Utrecht, The Netherlands | Duchenne Parent Project, The Netherlands | Department of Paediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands

Note: [] Correspondence to: J.C. van den Bergen, MD, Department of Neurology, K5-Q-110 Leiden University Medical Center Albinusdreef 2, 2333 ZA Leiden, The Netherlands. Tel.: +31 71 5262197; Fax: +31 71 5268253; E-mail: [email protected]

Keywords: Duchenne muscular dystrophy, natural history, corticosteroids, Mechanical home Ventilation, survival

DOI: 10.3233/JND-140005

Journal: Journal of Neuromuscular Diseases, vol. 1, no. 1, pp. 99-109, 2014

Published: 2014
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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 336 DMD patients (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.

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