{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T18:37:54Z","timestamp":1791571074019,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T00:00:00Z","timestamp":1649635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>With current and anticipated disease\u2010modifying treatments, including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is crucial to assure maximum benefit. In 2009, a study from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR<jats:italic>net<\/jats:italic>) showed an average diagnosis age of 5\u2009years among males with DMD born from January 1, 1982 to December 31, 2000. Initiatives were implemented by the US Centers for Disease Control and Prevention (CDC) and patient organizations to reduce time to diagnosis. We conducted a follow\u2010up study in a surveillance cohort born after January 1, 2000 to determine whether there has been an improvement in time to diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We assessed the age of diagnosis among males with DMD born from January 1, 2000 to December 31, 2015 using data collected by six US MD STAR<jats:italic>net<\/jats:italic> surveillance sites (Colorado, Iowa, western New York State, the Piedmont region of North Carolina, South Carolina, and Utah). The analytic cohort included 221 males with definite or probable DMD diagnosis without a documented family history. We computed frequency count and percentage for categorical variables, and mean, median, and standard deviation (SD) for continuous variables.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean [median] ages in years of diagnostic milestones were: first signs, 2.7 [2.0]; first creatine kinase (CK), 4.6 [4.6]; DNA\/muscle biopsy testing, 4.9 [4.8]; and time from first signs to diagnostic confirmation, 2.2 [1.4].<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The time interval between first signs of DMD and diagnosis remains unchanged at 2.2\u2009years. This results in lost opportunities for timely genetic counseling, implementation of standards of care, initiation of glucocorticoids, and participation in clinical trials.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27532","type":"journal-article","created":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T12:19:46Z","timestamp":1647865186000},"page":"193-197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000\u20102015"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3099-4520","authenticated-orcid":false,"given":"Shiny","family":"Thomas","sequence":"first","affiliation":[{"name":"New York State Department of Health  Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8633-966X","authenticated-orcid":false,"given":"Kristin M.","family":"Conway","sequence":"additional","affiliation":[{"name":"Department of Epidemiology University of Iowa, College of Public Health  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olushola","family":"Fapo","sequence":"additional","affiliation":[{"name":"New York State Department of Health  Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Street","sequence":"additional","affiliation":[{"name":"Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua R.","family":"Mann","sequence":"additional","affiliation":[{"name":"University of Mississippi Medical Center  Jackson Mississippi USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5393-9984","authenticated-orcid":false,"given":"Paul A.","family":"Romitti","sequence":"additional","affiliation":[{"name":"Department of Epidemiology University of Iowa, College of Public Health  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Soim","sequence":"additional","affiliation":[{"name":"New York State Department of Health  Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Westfield","sequence":"additional","affiliation":[{"name":"New York State Department of Health  Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.","family":"Fox","sequence":"additional","affiliation":[{"name":"New York State Department of Health  Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ciafaloni","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.02.007"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)05279-9"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0309"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306366"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30026-7"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009233"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2020.1264"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24555"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1808648115"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2020.1484"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20279"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810371001"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822623f1"},{"key":"e_1_2_10_17_1","unstructured":"National Task Force for Early Identification of Childhood Neuromuscular Disorders.Early Diagnosis Makes a Difference. Updated 2022.https:\/\/childmuscleweakness.org\/. Accessed January 21 2022."},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-1056"},{"key":"e_1_2_10_19_1","unstructured":"American Academy of Pediatrics. Does my child have physical developmental delays? Updated 2022.https:\/\/www.healthychildren.org\/english\/motordelay\/pages\/default.aspx. Accessed January 21 2022."},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2015.3537"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns3020008"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7040077"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns4010006"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.08.012"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27532","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27532","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27532","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T07:41:59Z","timestamp":1692862919000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,11]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/mus.27532"],"URL":"https:\/\/doi.org\/10.1002\/mus.27532","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,11]]},"assertion":[{"value":"2021-09-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}