{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T15:49:56Z","timestamp":1783352996579,"version":"3.54.6"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T00:00:00Z","timestamp":1658361600000},"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":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Disease progression in myotonic dystrophy (DM) is marked by milestone events when functional thresholds are crossed. DM type 2 (DM2) is considered less severe than DM type 1 (DM1), but it is unknown whether this applies uniformly to all features. We compared the age\u2010dependent risk for milestone events in DM1 and DM2 and tested for associations with age of onset and sex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied a large cohort of adult participants in a national registry of DM1 and DM2. Using annual surveys from participants, we ascertained milestone events for motor involvement (use of cane, walker, ankle brace, wheelchair, or ventilatory device), systemic involvement (diabetes, pacemaker, cancer), loss of employment due to DM, and death.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mean follow\u2010up of registry participants (929 DM1 and 222 DM2\u00a0patients) was 7\u2009years. Disability and motor milestones occurred at earlier ages in DM1 than in DM2. In contrast, the risk of diabetes was higher and tended to occur earlier in DM2 (hazard ratio [HR],\u00a00.56;<jats:italic>P<\/jats:italic>\u00a0\u2264\u2009.001). In DM1, the milestone events tended to occur earlier, and life expectancy was reduced, when symptoms began at younger ages. In DM1, men were at greater risk for disability (HR,\u00a01.34;<jats:italic>P<\/jats:italic>\u00a0\u2264\u2009.01), use of ankle braces (HR,\u00a01.41;<jats:italic>P<\/jats:italic>\u00a0=\u2009.02), and diabetes (HR,\u00a02.2;<jats:italic>P<\/jats:italic>\u00a0\u2264\u2009.0001), whereas women were at greater risk for needing walkers (HR,\u00a00.68;<jats:italic>P<\/jats:italic>\u00a0=\u2009.001) or malignancy (HR, 0.66;<jats:italic>P<\/jats:italic>\u00a0\u2264\u2009.01).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Milestone events recorded through registries can be used to assess long\u2010term impact of DM in large cohorts. Except for diabetes, the age\u2010related risk of milestone events is greater in DM1 than in DM2.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27674","type":"journal-article","created":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T04:24:53Z","timestamp":1656735893000},"page":"508-512","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Milestones of progression in myotonic dystrophy type 1 and type 2"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4851-7637","authenticated-orcid":false,"given":"Johanna I.","family":"Hamel","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"},{"name":"Department of Biostatistics and Computational Biology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Hilbert","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Martens","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Luebbe","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabi","family":"Tawil","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Richard T.","family":"Moxley","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A.","family":"Thornton","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00679-z"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6993-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000054481.84978.F9"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26194"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cct.2011.11.016"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23949"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.7350"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmpb.2019.03.002"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8653-2"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24440"},{"key":"e_1_2_9_12_1","first-page":"209","volume-title":"Handbook of Clinical Neurology","author":"Moxley RTIII","year":"1992"},{"key":"e_1_2_9_13_1","first-page":"252","article-title":"Metabolic impairments in patients with myotonic dystrophy type 2","volume":"37","author":"Vujnic M","year":"2018","journal-title":"Acta Myol."},{"key":"e_1_2_9_14_1","doi-asserted-by":"crossref","first-page":"e1045","DOI":"10.1212\/WNL.0000000000011425","article-title":"Population\u2010based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program","volume":"96","author":"Johnson NE","year":"2021","journal-title":"Neurology."}],"container-title":["Muscle &amp; 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