{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:09:54Z","timestamp":1790172594242,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T00:00:00Z","timestamp":1571788800000},"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":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Myotonic dystrophy type 1 (DM1) is caused by a CTG (cytosine\u2010thymine\u2010guanine) trinucleotide repeat expansion. Congenital DM (CDM) presents in the first month of life, whereas individuals with infantile and juvenile DM1 have later onset of symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective chart review of patients with childhood\u2010onset DM1 seen at one of three locations in Dallas, Texas between 1990 and 2018. Symptoms, disease course, cognitive features, and family history were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seventy\u2010four patients were included; CDM was diagnosed in 52 patients. There was maternal inheritance in 74% of patients. CTG repeat number ranged from 143 to 2300. Neuropsychiatric and cognitive deficits were common. Over half of the patients had GI disturbances, and orthopedic complications were common.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Myotonic dystrophy type 1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is required.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26716","type":"journal-article","created":{"date-parts":[[2019,9,14]],"date-time":"2019-09-14T10:53:27Z","timestamp":1568458407000},"page":"732-738","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Clinical and genetic characteristics of childhood\u2010onset myotonic dystrophy"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8655-9814","authenticated-orcid":false,"given":"Mathew","family":"Stokes","sequence":"first","affiliation":[{"name":"Department of Pediatrics &amp; Neurology, Division of Pediatric Neurology The University of Texas Southwestern Medical Center  Dallas Texas"},{"name":"Children's Medical Center Dallas  Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha","family":"Varughese","sequence":"additional","affiliation":[{"name":"Department of Pediatrics &amp; Neurology, Division of Pediatric Neurology The University of Texas Southwestern Medical Center  Dallas Texas"},{"name":"Children's Medical Center Dallas  Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Iannaccone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics &amp; Neurology, Division of Pediatric Neurology The University of Texas Southwestern Medical Center  Dallas Texas"},{"name":"Children's Medical Center Dallas  Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics &amp; Neurology, Division of Pediatric Neurology The University of Texas Southwestern Medical Center  Dallas Texas"},{"name":"Children's Medical Center Dallas  Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/pch\/15.8.514"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2006.04.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30698"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0017-5"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euq423"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2010.02213.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e3181982bf6"},{"issue":"6","key":"e_1_2_8_9_1","first-page":"892","article-title":"Respiratory muscle strength and quality of life in myotonic dystrophy patients [in English, Portuguese]","volume":"16","author":"Ara\u00fajo TL","year":"2010","journal-title":"Rev Port Pneumol."},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2014.04.011"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00009-5"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.5409\/wjcp.v4.i4.66"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2017.01.007"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2014.05.019"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.05.018"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2016.08.003"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006948"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13062"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14161"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.5152\/tjg.2018.17582"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-0007"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004420"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000531"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000526"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1597546"},{"key":"e_1_2_8_26_1","article-title":"Cardiovascular manifestations of myotonic dystrophy","author":"Wahbi K","journal-title":"Trends Cardiovasc Med."},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.12.002"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-170277"}],"container-title":["Muscle &amp; 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