{"id":"https://openalex.org/W2899605121","doi":"https://doi.org/10.1212/wnl.90.15_supplement.p5.433","title":"Longitudinal Evaluation of Disease Progression in Congenital Myotonic Dystrophy (P5.433)","display_name":"Longitudinal Evaluation of Disease Progression in Congenital Myotonic Dystrophy (P5.433)","publication_year":2018,"publication_date":"2018-04-10","ids":{"openalex":"https://openalex.org/W2899605121","doi":"https://doi.org/10.1212/wnl.90.15_supplement.p5.433","mag":"2899605121"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.90.15_supplement.p5.433","doi":"https://doi.org/10.1212/wnl.90.15_supplement.p5.433","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.90.15_supplement.p5.433","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013098751","display_name":"Nicholas Elwood Johnson","orcid":"https://orcid.org/0000-0002-3917-4257","observed_orcids":["https://orcid.org/0000-0002-3917-4257"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicholas Johnson","raw_affiliation_strings":["Neurology, University of Utah Salt Lake City UT United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology, University of Utah Salt Lake City UT United States","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090491639","display_name":"Melissa McIntyre","orcid":"https://orcid.org/0000-0001-7399-2117","observed_orcids":["https://orcid.org/0000-0001-7399-2117"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melissa McIntyre","raw_affiliation_strings":["Melissa McIntyre, University of Utah Salt Lake City UT United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Melissa McIntyre, University of Utah Salt Lake City UT United States","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025843729","display_name":"Melissa M. Dixon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melissa Dixon","raw_affiliation_strings":["University of Utah Salt Lake City UT United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah Salt Lake City UT United States","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026558962","display_name":"Becky Crockett","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Becky Crockett","raw_affiliation_strings":["University of Utah Salt Lake City UT United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah Salt Lake City UT United States","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047160801","display_name":"Jerry Bounsanga","orcid":"https://orcid.org/0000-0001-6852-4650","observed_orcids":["https://orcid.org/0000-0001-6852-4650"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jerry Bounsanga","raw_affiliation_strings":["University of Utah Salt Lake City UT United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah Salt Lake City UT United States","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064857956","display_name":"Man Hung","orcid":"https://orcid.org/0000-0003-2827-3740","observed_orcids":["https://orcid.org/0000-0003-2827-3740"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Man Hung","raw_affiliation_strings":["University of Utah Salt Lake City UT United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Utah Salt Lake City UT United States","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001131087","display_name":"Craig Campbell","orcid":"https://orcid.org/0000-0001-5216-7564","observed_orcids":["https://orcid.org/0000-0001-5216-7564"]},"institutions":[{"id":"https://openalex.org/I2800925808","display_name":"London Health Sciences Centre","ror":"https://ror.org/037tz0e16","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800925808"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Craig Campbell","raw_affiliation_strings":["Children\u2019s Hospital London Health Sciences Centre London ON Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital London Health Sciences Centre London ON Canada","institution_ids":["https://openalex.org/I2800925808"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.13064266,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":"90","issue":"15_supplement","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-myotonic-dystrophy","display_name":"congenital myotonic dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/disease-progression","display_name":"disease progression","score":0.984000027179718},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.6349999904632568},{"id":"https://openalex.org/keywords/myotonic-dystrophy-type-1","display_name":"myotonic dystrophy type 1","score":0.8209999799728394}],"concepts":[{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.9092329740524292},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5377007126808167},{"id":"https://openalex.org/C2780304057","wikidata":"https://www.wikidata.org/wiki/Q1277793","display_name":"Myotonia","level":3,"score":0.43110090494155884},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.42888641357421875},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3222026824951172},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1835334599018097}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.90.15_supplement.p5.433","doi":"https://doi.org/10.1212/wnl.90.15_supplement.p5.433","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.90.15_supplement.p5.433","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4389467380","https://openalex.org/W2422560353","https://openalex.org/W4389467349","https://openalex.org/W3116332102","https://openalex.org/W2550608552","https://openalex.org/W2513442097","https://openalex.org/W2621499814","https://openalex.org/W7146979370","https://openalex.org/W2152834363","https://openalex.org/W2039320719"],"abstract_inverted_index":{"Objective:":[0],"To":[1],"determine":[2],"the":[3,21,50,57,129,137,159,163,244],"longitudinal":[4],"progression":[5],"of":[6,25,52,68,106,147,204,246],"symptoms":[7,35],"in":[8,34,38,56,128,136,230,241,257,304],"children":[9],"with":[10,36,44,112,142,292],"congenital":[11],"myotonic":[12,17,26],"dystrophy":[13,18],"(CDM).":[14],"Background:":[15],"Congenital":[16],"(CDM)":[19],"is":[20],"severe,":[22],"infantile-onset":[23],"form":[24],"dystrophy.":[27],"Prior":[28],"cross-sectional":[29],"studies":[30],"identified":[31],"variable":[32],"improvement":[33,165,229],"age,":[37],"contrast":[39],"to":[40,63,167,331,337,343,349,355,361],"adults.":[41],"Design/Methods:":[42],"Participants":[43],"CDM":[45,113],"and":[46,79,99,104,114,151,216,236,269,296,324],"healthy":[47,118],"controls":[48,119],"between":[49],"ages":[51],"0\u201313":[53],"were":[54,120],"enrolled":[55],"study":[58],"cohorts,":[59],"stratified":[60],"by":[61],"age":[62,86,116,148,168,174,223,245],"ensure":[64],"an":[65,85,305],"even":[66],"distribution":[67],"ages.":[69],"Visits":[70],"occurred":[71],"over":[72,125,197,222],"a":[73,202,238,284],"2-day":[74],"period":[75],"at":[76],"baseline,":[77],"12,":[78],"24":[80],"months.":[81,199],"Each":[82],"cohort":[83],"received":[84,277,302,314],"appropriate":[87],"clinical":[88,252],"evaluation.":[89],"This":[90,226],"includes":[91],"neuropsychological":[92],"testing,":[93,97,101],"oral":[94],"facial":[95],"strength":[96,98,183,242],"functional":[100,232],"DEXA,":[102],"ECG,":[103],"quality":[105],"life":[107],"measurements.":[108],"Results:":[109],"Forty-nine":[110],"participants":[111,143,211,221],"29":[115],"matched":[117],"enrolled.":[121],"The":[122,133,179,191,200,263],"mean":[123,134,164,180],"decline":[124],"12":[126,198],"months":[127],"IQ":[130],"was":[131,140,170,177],"\u22127.2%.":[132],"change":[135],"lip":[138],"force":[139],"11%,":[141],"under":[144,212],"10":[145,155,169,175,213],"years":[146,214],"improving":[149,156],"17.2%":[150],"those":[152,210,220],"older":[153],"than":[154],"0.8%.":[157],"On":[158],"six":[160],"minute":[161],"walk,":[162],"up":[166],"48.9%,":[171],"then":[172],"after":[173,243],"it":[176],"4.9%.":[178],"right":[181],"grip":[182],"increased":[184,195],"0.42":[185],"kgs":[186],"(SD":[187],"1.87),":[188],"or":[189,289],"7.3%.":[190],"total":[192],"body":[193],"mass":[194],"33.7%":[196],"PDSS,":[201],"measure":[203],"daytime":[205],"sleepiness,":[206],"improved":[207],"3.8%":[208],"for":[209,219,255,280,308],"old":[215],"declined":[217],"\u221244.5%":[218],"10.":[224,247],"Conclusions:":[225],"work":[227],"supports":[228],"some":[231],"measures":[233],"during":[234],"childhood,":[235],"identifies":[237],"potential":[239,251],"plateau":[240],"These":[248],"data":[249],"identify":[250],"outcome":[253],"assessments":[254],"use":[256],"therapeutic":[258],"trials.":[259],"Study":[260],"Supported":[261],"by:":[262],"Muscular":[264],"Dystrophy":[265],"Association,":[266],"NINDS":[267],"(1K23NS091511-01),":[268],"Utah":[270],"Neuromuscular":[271],"Fund.":[272],"Disclosure:":[273],"Dr.":[274,299,311,327,333,339,345,351,357],"Johnson":[275,300,312],"has":[276,301,313,329,335,341,347,353,359],"personal":[278],"compensation":[279,303],"consulting,":[281],"serving":[282],"on":[283],"scientific":[285],"advisory":[286],"board,":[287],"speakering,":[288],"other":[290],"activities":[291],"AMO":[293,321],"Pharma,":[294,322],"AveXis":[295,323],"Strongbridge":[297],"Pharma.":[298],"editorial":[306],"capacity":[307],"Neurology":[309],"Genetics.":[310],"research":[315],"support":[316],"from":[317],"Biogen":[318],"Idec,":[319],"Cytokinetics,":[320],"Ionis":[325],"Pharmaceuticals.":[326],"McIntyre":[328],"nothing":[330,336,342,348,354,360],"disclose.":[332,338,344,350,356,362],"Dixon":[334],"Crockett":[340],"Bounsanga":[346],"Hung":[352],"Campbell":[358]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2018-11-16T00:00:00"}