J C van den Bergen1, H B Ginjaar2, A J van Essen3, R Pangalila4, I J M de Groot5, P J Wijkstra6, M P Zijnen7, N A M Cobben8, M J Kampelmacher9, B H A Wokke1, I F M de Coo10, J M Fock11, A M C Horemans12, M van Tol13, E Vroom14, M E B Rijlaarsdam15, C S M Straathof1, E H Niks1, J J G M Verschuuren1. 1. Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. 2. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. 3. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 4. Rijndam Rehabilitation Center, Rotterdam, The Netherlands. 5. Department of Rehabilitation, Radboud University Medical Center, Nijmegen, The Netherlands. 6. Department of Pulmonology/Center for Home Mechanical Ventilation, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 7. Department of Intensive Care/Center for Home Mechanical Ventilation, University Medical Center, Erasmus Medical Center, Rotterdam, The Netherlands. 8. Department of Pulmonology/Center for Home Mechanical Ventilation, Maastricht University Medical Center, Maastricht, The Netherlands. 9. Center for Home Mechanical Ventilation, University Medical Center Utrecht, Utrecht, The Netherlands. 10. Department of Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands. 11. Department of Child Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 12. Dutch Association for Neuromuscular Diseases, Baarn, The Netherlands. 13. Department of Rehabilitation, University Medical Center Utrecht, Utrecht, The Netherlands. 14. Duchenne Parent Project, The Netherlands. 15. Department of Paediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
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.
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 DMDpatients was gathered through the Dutch Dystrophinopathy Database using a standardized questionnaire and information from treating physicians. RESULTS: The study population involved 336 DMDpatients (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 &lt;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 &lt; 0.001). When comparing the recent cohort to the historical cohort, mean survival improved from 17 to 27 years (p &lt; 0.001). CONCLUSION: The current study gives detailed information about the disease course of DMDpatients, 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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Authors: Thom T J Veeger; Nienke M van de Velde; Kevin R Keene; Erik H Niks; Melissa T Hooijmans; Andrew G Webb; Jurriaan H de Groot; Hermien E Kan Journal: NMR Biomed Date: 2022-02-05 Impact factor: 4.478
Authors: Thom T J Veeger; Erik W van Zwet; Diaa Al Mohamad; Karin J Naarding; Nienke M van de Velde; Melissa T Hooijmans; Andrew G Webb; Erik H Niks; Jurriaan H de Groot; Hermien E Kan Journal: Muscle Nerve Date: 2021-08-25 Impact factor: 3.852
Authors: Karin J Naarding; Harmen Reyngoudt; Erik W van Zwet; Melissa T Hooijmans; Cuixia Tian; Irina Rybalsky; Karen C Shellenbarger; Julien Le Louër; Brenda L Wong; Pierre G Carlier; Hermien E Kan; Erik H Niks Journal: Neurology Date: 2020-01-14 Impact factor: 9.910
Authors: M T Hooijmans; N Doorenweerd; C Baligand; J J G M Verschuuren; I Ronen; E H Niks; A G Webb; H E Kan Journal: PLoS One Date: 2017-08-01 Impact factor: 3.240