{"orpha":589833,"name":"Late-onset Steinert myotonic dystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"],"definition":null,"note":"This disease is described under Steinert myotonic dystrophy","url":"https://raremap.alftech.space/d/ORPHA-589833/","orphanet_url":"https://www.orpha.net/en/disease/detail/589833","names":{"fr":{"name":"Dystrophie myotonique de Steinert à début tardif","synonyms":["Dystrophie myotonique de type 1 à début tardif","Maladie de Steinert à début tardif"]},"de":{"name":"Myotone Dystrophie Steinert mit spätem Beginn","synonyms":["Myotone Dystrophie Steinert, spät-beginnend","Steinert-Krankheit, spät-beginnende"]},"es":{"name":"Distrofia miotónica de Steinert de inicio tardío","synonyms":["Distrofia miotónica tipo 1 de inicio tardío","Enfermedad de Steinert de inicio tardío"]},"it":{"name":"Distrofia miotonica di Steinert ad esordio tardivo","synonyms":["Distrofia miotonica tipo 1 ad esordio tardivo","Malattia di Steinert ad esordio tardivo"]},"nl":{"name":"Myotone dystrofie van Steinert met late aanvang","synonyms":["Myotone dystrofie type 1 met late aanvang","Ziekte van Steinert met late aanvang","Ziekte van Steinert, late vorm"]},"pt":{"name":"Distrofia miotónica de Steinert de início tardio"},"pl":{"name":"Miotonia dystroficzna Steinerta o późnym początku","synonyms":["Miotonia dystroficzna o późnym początku typ 1"]},"cs":{"name":"Steinertova myotonická dystrofie s pozdním nástupem","synonyms":["Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"]},"uk":{"name":"Пізня міотонічна дистрофія Штейнерта","synonyms":["Пізня міотонічна дистрофія, тип 1","Хвороба Штейнерта з пізнім початком"]},"zh":{"name":"Late-onset Steinert myotonic dystrophy","synonyms":["Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"]},"tr":{"name":"Late-onset Steinert myotonic dystrophy","synonyms":["Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"]}},"xrefs":[{"source":"OMIM","code":"160900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035650","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680308","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":273,"name":"Steinert myotonic dystrophy","classifications":[146,147,156,181,189,233]}],"children":[],"genes":[{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.14,"area":"Italy","status":"Validated","source":"26882032[PMID]"}],"phenotypes":null}