{"orpha":589827,"name":"Juvenile-onset Steinert myotonic dystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"],"definition":null,"note":"This disease is described under Steinert myotonic dystrophy","url":"https://raremap.alftech.space/d/ORPHA-589827/","orphanet_url":"https://www.orpha.net/en/disease/detail/589827","names":{"fr":{"name":"Dystrophie myotonique de Steinert à début juvénile","synonyms":["Dystrophie myotonique de type 1 à début juvénile","Maladie de Steinert à début juvénile"]},"de":{"name":"Myotone Dystrophie Steinert, juvenile Form","synonyms":["Myotone Dystrophie Typ 1 des Jugendlichen","Steinert-Krankheit, juvenile"]},"es":{"name":"Distrofia miotónica de Steinert de inicio juvenil","synonyms":["Distrofia miotónica tipo 1 de inicio juvenil","Enfermedad de Steinert de inicio juvenil"]},"it":{"name":"Distrofia miotonica di Steinert ad esordio giovanile","synonyms":["Distrofia miotonica tipo 1 ad esordio giovanile","Malattia di Steinert ad esordio giovanile"]},"nl":{"name":"Myotone dystrofie van Steinert met juveniele aanvang","synonyms":["Myotone dystrofie type 1 met juveniele aanvang","Ziekte van Steinert met juveniele aanvang","Ziekte van Steinert, juveniele vorm"]},"pt":{"name":"Distrofia miotónica de Steinert de início na adolescência"},"pl":{"name":"Dystrofia miotoniczna Steinerta młodocianych","synonyms":["Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"]},"cs":{"name":"Steinertova myotonická dystrofie s nástupem u mladistvých","synonyms":["Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"]},"uk":{"name":"Ювенільна міотонічна дистрофія Штейнерта","synonyms":["Ювенільна міотонічна дистрофія 1-го типу","Хвороба Штейнерта, що починається в юнацькому віці"]},"zh":{"name":"Juvenile-onset Steinert myotonic dystrophy","synonyms":["Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"]},"tr":{"name":"Juvenile-onset Steinert myotonic dystrophy","synonyms":["Juvenile-onset Steinert disease","Juvenile-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":"index","validated":true,"icd11_uri":"844053282"},{"source":"MONDO","code":"0035648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680306","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"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":["Childhood"],"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":1.64,"area":"Italy","status":"Validated","source":"26882032[PMID]"}],"phenotypes":null}