{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:49:43Z","timestamp":1792784983339,"version":"4.5.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T00:00:00Z","timestamp":1672876800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T00:00:00Z","timestamp":1672876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e4tsklinik M\u00fcnchen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder manifesting in early childhood with progressive muscular weakness and atrophy, and resulting in early loss of ambulation. The collection and evaluation of epidemiological data for this disease is crucial for an early diagnosis and disease management. In Germany, data are collected via the TREAT-NMD DMD patient registry (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.dmd-register.de\">www.dmd-register.de<\/jats:ext-link>\n                    ). In contrast, data collection in Austria has not yet been performed systematically. For collecting data from Austrian DMD patients, an online survey of the patient\u2019s caregivers was conducted. Data of 57 patients were collected entailing initial symptoms, diagnosis and therapeutic measures. Comparable data has been collected for Germany via the TREAT-NMD DMD patient registry. 57 DMD patients aged 4\u201334\u00a0years completed the Austrian survey. On average, first symptoms of the disease appeared at the age of 3.1\u00a0years. As the most frequent first symptom, 46% of the patients described problems in climbing stairs. In 40% of the patients, DMD was diagnosed early due to an accidentally detected hyperCKemia in infancy or early childhood. Corticosteroids represented the main therapeutic option in our cohort. At the time of the survey, only 52% of the patients were treated with corticosteroids. Patients from Germany reported that first symptoms appeared at the age of 3.06\u00a0years. Diagnosis was established by genetic testing or muscle biopsy. 47% of the patients were treated with corticosteroids. Time between first symptoms and diagnosis was 7\u00a0months in Austria, and 4.7\u00a0months in Germany, respectively. Compared to earlier international studies, the Austrian data show encouraging results regarding earlier start of corticosteroid therapy in a larger percentage of patients. Austrian and German data show a trend towards an earlier diagnosis of DMD, while the age at symptom onset was similar to previous studies. The collection and evaluation of epidemiological data of DMD patients is important and will hopefully contribute to accelerate DMD diagnosis and treatment access for the patients.\n                  <\/jats:p>","DOI":"10.1038\/s41598-022-27289-2","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T06:03:02Z","timestamp":1672898582000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany"],"prefix":"10.1038","volume":"13","author":[{"given":"Miriam","family":"Hiebeler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Reilich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcnther","family":"Bernert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,1,5]]},"reference":[{"issue":"January","key":"27289_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/bmj.l7012","volume":"368","author":"H Fox","year":"2020","unstructured":"Fox, H., Millington, L., Mahabeer, I. & Van Ruiten, H. Duchenne muscular dystrophy. BMJ [Internet]. 368(January), 1\u20139. https:\/\/doi.org\/10.1136\/bmj.l7012 (2020).","journal-title":"BMJ [Internet]."},{"issue":"13","key":"27289_CR2","first-page":"1","volume":"7","author":"D Duan","year":"2021","unstructured":"Duan, D., Goemans, N., Takeda, S., Mercuri, E. & Aartsma-Rus, A. Duchenne muscular dystrophy. Nat. Rev. 7(13), 1\u201319 (2021).","journal-title":"Nat. Rev."},{"key":"27289_CR3","first-page":"1","volume":"7","author":"M Walter","year":"2018","unstructured":"Walter, M. et al. Fr\u00fchdiagnose der Duchenne Muskeldystrophie\u2014Entwicklungsverz\u00f6gerung kann wegweisend sein. Kinder- und Jugendarzt. 7, 1\u20136 (2018).","journal-title":"Kinder- und Jugendarzt."},{"issue":"7","key":"27289_CR4","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1038\/s41582-019-0203-3","volume":"15","author":"IEC Verhaart","year":"2019","unstructured":"Verhaart, I. E. C. & Aartsma-Rus, A. Therapeutic developments for Duchenne muscular dystrophy. Nat. Rev. Neurol. 15(7), 373\u2013386. https:\/\/doi.org\/10.1038\/s41582-019-0203-3 (2019).","journal-title":"Nat. Rev. Neurol."},{"issue":"12","key":"27289_CR5","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1136\/archdischild-2014-306366","volume":"99","author":"HJA van Ruiten","year":"2014","unstructured":"van Ruiten, H. J. A., Straub, V., Bushby, K. & Guglieri, M. Improving recognition of Duchenne muscular dystrophy: A retrospective case note review. Arch. Dis. Child. 99(12), 1074\u20131077 (2014).","journal-title":"Arch. Dis. Child."},{"issue":"4","key":"27289_CR6","doi-asserted-by":"publisher","first-page":"517","DOI":"10.3233\/JND-160185","volume":"3","author":"J Vry","year":"2016","unstructured":"Vry, J. et al. European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences. J. Neuromuscul. 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Muscle Nerve. 66, 193\u2013215 (2022).","journal-title":"Muscle Nerve."},{"issue":"10","key":"27289_CR9","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1038\/ejhg.2014.301","volume":"23","author":"SH Wong","year":"2015","unstructured":"Wong, S. H. et al. A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. Eur. J. Hum. Genet. 23(10), 1294\u20131300 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"27289_CR10","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1016\/S0140-6736(98)05279-9","volume":"353","author":"KMD Bushby","year":"1999","unstructured":"Bushby, K. M. D., Hill, A. & Steele, J. G. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy Randomised cross-over study of patient-held records in oncology and palliative care. 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Walter has served on advisory boards for Avexis, Biogen, Novartis, Pfizer, Roche, Santhera, Sarepta, Pharnext, PTC Therapeutics, Ultragenyx, Wave Sciences, received funding for Travel or Speaker Honoraria from Avexis, Biogen, PTC Therapeutics, Ultragenyx, Santhera, Sarepta, and worked as an ad-hoc consultant for AskBio, Audentes Therapeutics, Avexis, Biogen Pharma GmbH, Fulcrum Therapeutics, GLG Consult, Guidepoint Global, Gruenenthal Pharma, Novartis, Pharnext, PTC Therapeutics, Roche. Miriam Hiebeler has no competing interests. Simone Thiele has received financial support for advisory services from PTC. G\u00fcnther Bernert has served on advisory boards for Avexis, Biogen, Novartis, Pfizer, Roche, Santhera, Sarepta, PTC Therapeutics, he received funding for Travel or Speaker Honoraria from Avexis, Biogen, Novartis, PTC Therapeutics, Roche and worked as an ad-hoc consultant for Biogen Pharma GmbH, PTC Therapeutics, and Roche. Peter Reilich has no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"179"}}