{"orpha":589824,"name":"Childhood-onset Steinert myotonic dystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"],"definition":null,"note":"This disease is described under Steinert myotonic dystrophy","url":"https://raremap.alftech.space/d/ORPHA-589824/","orphanet_url":"https://www.orpha.net/en/disease/detail/589824","names":{"fr":{"name":"Dystrophie myotonique de Steinert, forme infantile","synonyms":["Dystrophie myotonique de type 1, forme infantile","Maladie de Steinert, forme infantile"]},"de":{"name":"Myotone Dystrophie Steinert mit Beginn im Kindesalter","synonyms":["Myotone Dystrophie Typ 1 des Kindes","Steinert-Krankheit, im Kindesalter beginnend"]},"es":{"name":"Distrofia miotónica de Steinert de inicio en la infancia","synonyms":["Distrofia miotónica tipo 1 de inicio en la infancia","Enfermedad de Steinert de inicio en la infancia"]},"it":{"name":"Distrofia miotonica di Steinert ad esordio infantile","synonyms":["Distrofia miotonica ad esordio infantile tipo 1","Malattia di Steinert ad esordio infantile"]},"nl":{"name":"Myotone dystrofie van Steinert met aanvang in de kindertijd","synonyms":["Myotone dystrofie type 1 met aanvang in de kindertijd","Ziekte van Steinert met aanvang in de kindertijd","Ziekte van Steinert, kindervorm"]},"pt":{"name":"Distrofia miotónica de Steinert de início na infância"},"pl":{"name":"Dystrofia miotoniczna Steinerta o początku w dzieciństwie","synonyms":["Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"]},"cs":{"name":"Steinertova myotonická dystrofie s nástupem v dětstkém věku","synonyms":["Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"]},"uk":{"name":"Дитяча міотонічна дистрофія Штейнерта","synonyms":["Міотонічна дистрофія 1-го типу, що почалася в дитинстві","Хвороба Штейнерта, що починається в дитинстві"]},"zh":{"name":"Childhood-onset Steinert myotonic dystrophy","synonyms":["Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"]},"tr":{"name":"Childhood-onset Steinert myotonic dystrophy","synonyms":["Childhood-onset Steinert disease","Childhood-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":"0035647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680307","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","Infancy"],"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":1.29,"area":"Italy","status":"Validated","source":"26882032[PMID]"}],"phenotypes":null}