BACKGROUND: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. METHODS: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries. RESULTS: Survey respondents were 861 children and 201 adults. Data describe a European DMD population with mean age of 13.0 years (range 0.8-46.2) of whom 53% had lost ambulation (at 10.3 years of age, median). Corticosteroid medication raised the median age for ambulatory loss from 10.1 years in patients never medicated to 11.4 years in patients who received steroids (p < 0.0001). The majority of patients reported receiving care in line with guidelines, although we identified significant differences between countries and important shortcomings in prevention and treatment. Summarised, 35% of patients aged≥ nine years received no corticosteroid medication, 24% of all patients received no regular physiotherapy, echocardiograms were not performed regularly in 22% of patients, pulmonary function was not regularly assessed in 71% of non-ambulatory patients. Patients with regular follow-up by neuromuscular specialists were more likely to receive care according to guidelines, were better satisfied, and experienced shorter unplanned hospitalization periods.

Department of Molecular Genetics and Diagnostics National Institute of Environmental Health Budapest Hungary

Department of Neurology Medical University of Warsaw Warsaw Poland

Department of Neuropediatrics and Muscle Disorders Medical Center University of Freiburg Freiburg Germany

Department of Paediatric Neurology University Hospital in Brno and Faculty of Medicine Masaryk University Brno Czech Republic

Department of Pediatrics Semmelweis University Budapest Hungary

Institute for Medical Biometry and Statistics Faculty of Medicine and Medical Center University of Freiburg Freiburg Germany

Institute of Biostatistics and Analyses Masaryk University Brno Czech Republic

Medical University of Sofia Department of Neurology University Hospital Alexandrovska and Bulgarian Neuromuscular Disorders Society Sofia Bulgaria

Medical University of Sofia Department of Neurology University Hospital Sofiamed and Bulgarian Neuromuscular Disorders Society Sofia Bulgaria

National Rehabilitation Center for Neuromuscular Diseases Aarhus Denmark

The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine Newcastle University International Centre for Life Central Parkway Newcastle upon Tyne UK

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Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012;71(3):304–13. PubMed

Brooke MH, Fenichel GM, Griggs RC. Duchenne Dystrophy: Patterns of clinical progression and effects of supportive therapy. Neurology. 1989;39:475–81. PubMed

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93. PubMed

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care. Lancet Neurol. 2010;9(2):177–89. PubMed

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, et al. The TREAT-NMD Duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia. Hum Mutat. 2013;34(11):1449–57. PubMed

Steffensen B, Hyde S, Lyager S, Mattsson E. Validity of the EK scale: A functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int. 2001;6(3):119–34. PubMed

Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60(12):1019–24. PubMed PMC

Bushby KM, Hill A, Steele JG. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy. Lancet. 1999;353(9152):557–8. PubMed

Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed diagnosis in duchenne muscular dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009;155(3):380–5. PubMed PMC

Ricotti V, Ridout DA, Scott E, Quinlivan R, Robb SA, Manzur AY, et al. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry. 2013;84(6):698–705. PubMed

Mirski KT, Crawford TO. Motor and Cognitive Delay in Duchenne Muscular Dystrophy: Implication for Early Diagnosis. J Pediatr. 2014;165(5):1008–10. PubMed

Goemans N, Buyse G. Current treatment and management of dystrophinopathies. Curr Treat Options Neurol. 2014;16(5):287. PubMed

Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, et al. Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients. J Neurol. 2013;260(12):3023–9. PubMed PMC

Janssen MM, Bergsma A, Geurts AC, De Groot IJ. Patterns of decline in upper limb function of boys and men with DMD: An international survey. J Neurol. 2014;261(7):1269–88. PubMed

Bartels B, Pangalila RF, Bergen MP, Cobben NA, Stam HJ, Roebroeck ME. Upper limb function in adults with Duchenne muscular dystrophy. J Rehabil Med. 2011;43(9):770–5. PubMed

Eagle M, Bourke J, Bullock R, Gibson M, Mehta J, Giddings D, et al. Managing Duchenne muscular dystrophy–the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord. 2007;17(6):470–5. PubMed

Kohler M, Clarenbach CF, Bahler C, Brack T, Russi EW, Bloch KE. Disability and survival in Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry. 2009;80(3):320–5. PubMed

Alemdaroglu I, Karaduman A, Yilmaz OT, Topaloglu H. Different types of upper extremity exercise training in Duchenne muscular dystrophy: Effects on functional performance, strength, endurance, and ambulation. Muscle Nerve. 2014;51(5):697–705. PubMed

Shapiro F, Zurakowski D, Bui T, Darras BT. Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: Coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity. Bone Joint J. 2014;96-B(1):100–5. PubMed

Hsu JD, Quinlivan R. Scoliosis in Duchenne muscular dystrophy (DMD). Neuromuscul Disord. 2013;23(8):611–7. PubMed

Lannon CM, Peterson LE. Pediatric collaborative networks for quality improvement and research. Acad Pediatr. 2013;13(6 Suppl):S69–S74. PubMed

Anderson JB, Beekman RH III, Kugler JD, Rosenthal GL, Jenkins KJ, Klitzner TS, et al. Use of a Learning Network to Improve Variation in Interstage Weight Gain after the Norwood Operation. Congenit Heart Dis. 2014;9(6):512–20. PubMed

Spurney C, Shimizu R, Morgenroth LP, Kolski H, Gordish-Dressman H, Clemens PR. Cooperative International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy. Muscle Nerve. 2014;50(2):250–6. PubMed PMC

Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005;112(18):2799–804. PubMed

Abbott D, Carpenter J. Wasting precious time: Young men with Duchenne muscular dystrophy negotiate the transition to adulthood. Disability & Society. 2014;29(8):1192–205.

Schrans DG, Abbott D, Peay HL, Pangalila RF, Vroom E, Goemans N, et al. Transition in Duchenne muscular dystrophy: An expert meeting report and description of transition needs in an emergent patient population: (Parent Project Muscular Dystrophy Transition Expert Meeting 17-18 June Amsterdam, The Netherlands). Neuromuscul Disord. 2013;23(3):283–6. PubMed

Rodger S, Woods KL, Bladen CL, Stringer A, Vry J, Gramsch K, et al. Adult care for Duchenne muscular dystrophy in the UK. J Neurol. 2015;262(3):629–41. PubMed PMC

Texture analysis of cardiovascular MRI native T1 mapping in patients with Duchenne muscular dystrophy

Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling

Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients

DMD Pluripotent Stem Cell Derived Cardiac Cells Recapitulate in vitro Human Cardiac Pathophysiology

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping