{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:03:46Z","timestamp":1792598626379,"version":"4.5.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"DOI":"10.13039\/100019721","name":"Roche Espa\u00f1a","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019721","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Ther"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1007\/s40120-026-00903-5","type":"journal-article","created":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T16:05:33Z","timestamp":1772121933000},"page":"1033-1042","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain"],"prefix":"10.1007","volume":"15","author":[{"given":"Carlos","family":"Ortez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Branas-Pampill\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaqu\u00edn Alejandro","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Guillen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngeles","family":"Terrancle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Maurino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisol","family":"Montolio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Camacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,26]]},"reference":[{"issue":"1","key":"903_CR1","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","volume":"7","author":"D Duan","year":"2021","unstructured":"Duan D, Goemans N, Takeda S, et al. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7(1):13.","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"903_CR2","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","volume":"12","author":"S Ryder","year":"2017","unstructured":"Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"903_CR3","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01430-8","volume":"15","author":"S Crisafulli","year":"2020","unstructured":"Crisafulli S, Sultana J, Fontana A, et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):141.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"903_CR4","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.1948","volume":"11","author":"KI M\u00fcller","year":"2021","unstructured":"M\u00fcller KI, Ghelue MV, Lund I, et al. The prevalence of hereditary neuromuscular disorders in Northern Norway. Brain Behav. 2021;11(1):e01948.","journal-title":"Brain Behav"},{"issue":"7-8","key":"903_CR5","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1177\/08830738241256154","volume":"39","author":"R Machado","year":"2024","unstructured":"Machado R, Costa C, Fineza I, et al. Prevalence and classification of pediatric neuromuscular disorders in the Central Region of Portugal. J Child Neurol. 2024;39(7\u20138):233\u201340.","journal-title":"J Child Neurol"},{"issue":"1","key":"903_CR6","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1007\/s00431-024-05903-x","volume":"184","author":"A Capasso","year":"2024","unstructured":"Capasso A, Cicala G, Ricci M, et al. Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey. Eur J Pediatr. 2024;184(1):86.","journal-title":"Eur J Pediatr"},{"issue":"3","key":"903_CR7","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251\u201367.","journal-title":"Lancet Neurol"},{"issue":"9","key":"903_CR8","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1007\/s00415-011-5979-z","volume":"258","author":"F Magri","year":"2011","unstructured":"Magri F, Govoni A, D\u2019Angelo MG, et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol. 2011;258(9):1610\u201323.","journal-title":"J Neurol"},{"issue":"10213","key":"903_CR9","doi-asserted-by":"publisher","first-page":"2025","DOI":"10.1016\/S0140-6736(19)32910-1","volume":"394","author":"E Mercuri","year":"2019","unstructured":"Mercuri E, B\u00f6nnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394(10213):2025\u201338.","journal-title":"Lancet"},{"issue":"1","key":"903_CR10","doi-asserted-by":"publisher","DOI":"10.1038\/s41398-019-0535-1","volume":"9","author":"AM Patel","year":"2019","unstructured":"Patel AM, Wierda K, Thorrez L, et al. Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes. Transl Psychiatry. 2019;9(1):200.","journal-title":"Transl Psychiatry"},{"issue":"17","key":"903_CR11","doi-asserted-by":"publisher","first-page":"e1597","DOI":"10.1212\/WNL.0000000000008363","volume":"93","author":"M Thangarajh","year":"2019","unstructured":"Thangarajh M, Hendriksen J, McDermott MP, Muscle Study Group and TREAT-NMD, et al. Relationships between DMD mutations and neurodevelopment in dystrophinopathy. Neurology. 2019;93(17):e1597\u2013604.","journal-title":"Neurology"},{"issue":"1","key":"903_CR12","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1002\/mus.28102","volume":"70","author":"S Rosero","year":"2024","unstructured":"Rosero S, Weinstein J, Seabury J, et al. Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy. Muscle Nerve. 2024;70(1):120\u20139.","journal-title":"Muscle Nerve"},{"issue":"10","key":"903_CR13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0307118","volume":"19","author":"F Muntoni","year":"2024","unstructured":"Muntoni F, Goemans N, Posner N, et al. Characterization of patients with Duchenne muscular dystrophy across previously developed health states. PLoS ONE. 2024;19(10):e0307118.","journal-title":"PLoS ONE"},{"issue":"2","key":"903_CR14","doi-asserted-by":"publisher","first-page":"443","DOI":"10.3233\/JND-230133","volume":"11","author":"JH Rudolfsen","year":"2024","unstructured":"Rudolfsen JH, Vissing J, Werlauff U, et al. Burden of disease of Duchenne muscular dystrophy in Denmark\u2014a national register-based study of individuals with Duchenne muscular dystrophy and their closest relatives. J Neuromuscul Dis. 2024;11(2):443\u201357.","journal-title":"J Neuromuscul Dis"},{"issue":"6","key":"903_CR15","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1002\/mus.28368","volume":"71","author":"C Qian","year":"2025","unstructured":"Qian C, Klimchak AC, Szabo SM, et al. Longitudinal outcomes among patients with Duchenne muscular dystrophy: a Canadian retrospective population-based study. Muscle Nerve. 2025;71(6):955\u201362.","journal-title":"Muscle Nerve"},{"issue":"7","key":"903_CR16","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1016\/j.nrl.2018.01.001","volume":"34","author":"A Nascimento Osorio","year":"2019","unstructured":"Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, et al. Consenso para el diagn\u00f3stico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne. Neurologia (Engl Ed). 2019;34(7):469\u201381.","journal-title":"Neurologia (Engl Ed)"},{"issue":"5","key":"903_CR17","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2025.104397","volume":"47","author":"H Komaki","year":"2025","unstructured":"Komaki H. Duchenne muscular dystrophy: evolving therapeutic strategies and multidimensional evaluation approaches. Brain Dev. 2025;47(5):104397.","journal-title":"Brain Dev"},{"issue":"4","key":"903_CR18","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1016\/S1474-4422(24)00082-6","volume":"23","author":"J Kirschner","year":"2024","unstructured":"Kirschner J. New therapeutic avenues for Duchenne muscular dystrophy. Lancet Neurol. 2024;23(4):330\u20131.","journal-title":"Lancet Neurol"},{"issue":"Suppl 2","key":"903_CR19","doi-asserted-by":"publisher","first-page":"S90","DOI":"10.1542\/peds.2018-0333K","volume":"142","author":"G Noritz","year":"2018","unstructured":"Noritz G, Naprawa J, Apkon SD, et al. Primary care and emergency department management of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142(Suppl 2):S90\u20138.","journal-title":"Pediatrics"},{"issue":"4","key":"903_CR20","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/S1474-4422(18)30025-5","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347\u201361.","journal-title":"Lancet Neurol"},{"key":"903_CR21","doi-asserted-by":"publisher","first-page":"1260610","DOI":"10.3389\/fneur.2023.1260610","volume":"14","author":"M Malaga","year":"2024","unstructured":"Malaga M, Rodriguez-Calienes A, Chavez-Ecos FA, et al. Clinical practice guidelines for the diagnosis and management of Duchenne muscular dystrophy: a scoping review. Front Neurol. 2024;14:1260610.","journal-title":"Front Neurol"},{"key":"903_CR22","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.104467","volume":"45","author":"M Lorentzos","year":"2024","unstructured":"Lorentzos M, Parsons JA, Jones KJ, et al. Early diagnosis of Duchenne muscular dystrophy\u2014a Treat-NMD international workshop. Neuromuscul Disord. 2024;45:104467.","journal-title":"Neuromuscul Disord"},{"key":"903_CR23","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1276144","volume":"11","author":"E Mercuri","year":"2023","unstructured":"Mercuri E, Pane M, Cicala G, et al. Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications. Front Pediatr. 2023;11:1276144.","journal-title":"Front Pediatr"},{"issue":"1","key":"903_CR24","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-27289-2","volume":"13","author":"M Hiebeler","year":"2023","unstructured":"Hiebeler M, Thiele S, Reilich P, et al. Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany. Sci Rep. 2023;13(1):179.","journal-title":"Sci Rep"},{"issue":"3\u20134","key":"903_CR25","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s10528-012-9554-9","volume":"51","author":"I Sansovi\u0107","year":"2013","unstructured":"Sansovi\u0107 I, Bari\u0161i\u0107 I, Dumi\u0107 K. Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method. Biochem Genet. 2013;51(3\u20134):189\u2013201.","journal-title":"Biochem Genet"},{"issue":"8","key":"903_CR26","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26083579","volume":"26","author":"J Sarvutiene","year":"2025","unstructured":"Sarvutiene J, Ramanavicius A, Ramanavicius S, et al. Advances in Duchenne muscular dystrophy: diagnostic techniques and dystrophin domain insights. Int J Mol Sci. 2025;26(8):3579.","journal-title":"Int J Mol Sci"},{"issue":"5","key":"903_CR27","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/S1474-4422(18)30026-7","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445\u201355.","journal-title":"Lancet Neurol"},{"issue":"12","key":"903_CR28","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1136\/archdischild-2014-306971","volume":"99","author":"R Quinlivan","year":"2014","unstructured":"Quinlivan R. Early diagnosis of Duchenne muscular dystrophy is essential to improve long term outcomes. Arch Dis Child. 2014;99(12):1061.","journal-title":"Arch Dis Child"},{"issue":"5","key":"903_CR29","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.nmd.2017.02.006","volume":"27","author":"A D'Amico","year":"2017","unstructured":"D\u2019Amico A, Catteruccia M, Baranello G, et al. Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: critical issues and areas for improvements. Neuromuscul Disord. 2017;27(5):447\u201351.","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"903_CR30","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1002\/mus.23304","volume":"45","author":"CM McDonald","year":"2012","unstructured":"McDonald CM, Han JJ, Mah JK, et al. Corticosteroids and Duchenne muscular dystrophy: does earlier treatment really matter? Muscle Nerve. 2012;45(6):777\u20139.","journal-title":"Muscle Nerve"},{"issue":"5","key":"903_CR31","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.71113","volume":"60","author":"F Racca","year":"2025","unstructured":"Racca F, Finder JD, Mercuri E, et al. Current standards and future directions of Duchenne muscular dystrophy respiratory care: the PPMD Italy meeting report. Pediatr Pulmonol. 2025;60(5):e71113.","journal-title":"Pediatr Pulmonol"},{"key":"903_CR32","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1016\/j.jpeds.2016.11.078","volume":"182","author":"BL Wong","year":"2017","unstructured":"Wong BL, Rybalsky I, Shellenbarger KC, et al. Long-term outcome of interdisciplinary management of patients with Duchenne muscular dystrophy receiving daily glucocorticoid treatment. J Pediatr. 2017;182:296\u2013303.","journal-title":"J Pediatr"},{"key":"903_CR33","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2023.120545","volume":"446","author":"E Landfeldt","year":"2023","unstructured":"Landfeldt E. Measuring health-related quality of life in Duchenne muscular dystrophy: current perspectives and recommendations. J Neurol Sci. 2023;446:120545.","journal-title":"J Neurol Sci"},{"issue":"7","key":"903_CR34","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci15070695","volume":"15","author":"F Tizzoni","year":"2025","unstructured":"Tizzoni F, Canella G, Delle Fave A, et al. Living with Duchenne muscular dystrophy beyond the physical implications: cognitive features, psychopathology aspects, and psychosocial resources-a narrative review. Brain Sci. 2025;15(7):695.","journal-title":"Brain Sci"}],"container-title":["Neurology and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40120-026-00903-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40120-026-00903-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40120-026-00903-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T14:08:15Z","timestamp":1778681295000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40120-026-00903-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,26]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["903"],"URL":"https:\/\/doi.org\/10.1007\/s40120-026-00903-5","relation":{},"ISSN":["2193-8253","2193-6536"],"issn-type":[{"value":"2193-8253","type":"print"},{"value":"2193-6536","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,26]]},"assertion":[{"value":"30 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Carlos Ortez has received speaker fees from Novartis, PTC Therapeutics, Roche, and Sarepta Therapeutics, and is an investigator on clinical trials related to DMD, sponsored by Italfarmaco S.p.A., PTC Therapeutics, Roche, and Sarepta Therapeutics. Ana Camachohas received speaker fees from PTC Therapeutics and is an investigator on clinical trials sponsored by Santhera and Roche. Jorge Maurino, Marian Terrancle, Elisa Guill\u00e9n, and Maria Bra\u00f1as Pampillon are employees of Roche Farma Spain. Marisol Montolio has participated in the ePAG Eurordis Advocacy Group and Board of SEMIO (Myology Spanish Society). Joaqu\u00edn Alejandro Fernandez declared no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"The study was approved by the Ethics Committee of Hospital Cl\u00ednico San Carlos, Madrid, Spain and adhered to the Declaration of Helsinki. All participants provided written informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}