{"orpha":210571,"name":"Dystonia 16","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT16","Early-onset dystonia parkinsonism"],"definition":"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210571/","orphanet_url":"https://www.orpha.net/en/disease/detail/210571","names":{"fr":{"name":"Dystonie 16","synonyms":["DYT16","Dystonie parkinsonisme précoce"],"definition":"La dystonie 16 (DYT16) est un trouble du mouvement très rare et connu depuis peu. Elle se caractérise par une dystonie précoce et progressive des membres, une dystonie laryngée et oromandibulaire, ainsi qu'un syndrome parkinsonien."},"de":{"name":"Dystonie 16","synonyms":["DYT16","Dystonie-Parkinsonismus mit frühem Beginn"],"definition":"Die Dystonie 16 (DYT16) ist eine sehr seltene, kürzlich erkannte Bewegungsstörung und gekennzeichnet durch früh beginnende fortschreitende Dystonie der Gliedmassen, laryngeale und oro-mandibuläre Dystonie und Parkinsonismus."},"es":{"name":"Distonía 16","synonyms":["DYT16","Distonía parkinsonismo de inicio precoz"],"definition":"La distonía 16 (DYT16) es un trastorno del movimiento muy raro descubierto recientemente, que se caracteriza por una distonía progresiva y de aparición temprana que afecta a las extremidades, distonía laríngea y oromandibular, y parkinsonismo."},"it":{"name":"Distonia 16","synonyms":["DYT16","Distonia - parkinsonismo, a esordio precoce"],"definition":"La distonia 16 (DYT16) è una patologia molto rara del movimento, scoperta solo recentemente, caratterizzata da distonia progressiva degli arti a esordio precoce, distonia laringea e oromandibolare e parkinsonismo."},"nl":{"name":"Dystonie 16","synonyms":["DYT16","Vroeg optredende dystonie-parkinsonisme"],"definition":"Dystonie 16 is een zeer zeldzame en recent ontdekte bewegingsstoornis die wordt gekarakteriseerd door progressieve dystonie van een ledemaat met vroege aanvang, laryngeale en oromandibulaire dystonie, en parkinsonisme."},"pt":{"name":"Distonia 16"},"pl":{"name":"Dystonia 16","synonyms":["Dystonia parkinsonizm o wczesnym początku","DYT16"],"definition":"Dystonia 16 (DYT16) to bardzo rzadkie nowo zdiagnozowane zaburzenie ruchu, które charakteryzuje się postępującą dystonią kończyn o wczesnym początku, dystonią gardłową i ustno-żuchwową oraz parkinsonizmem."},"cs":{"name":"Dystonie 16","synonyms":["DYT16","Dystonický parkinsonismus s časným nástupem"]},"uk":{"name":"Дистонія 16","synonyms":["DYT16","Паркінсонізм з дистонією на ранніх стадіях"],"definition":"Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."},"zh":{"name":"肌张力障碍症16型","synonyms":["早发型肌张力障碍帕金森症"],"definition":"肌张力障碍16（DYT16）是一种非常罕见的新发运动障碍，其主要临床表现为早发的进行性肢体肌张力障碍、喉和口下颌肌张力障碍和帕金森综合征。"},"tr":{"name":"Distoni 16","synonyms":["DYT16","Erken başlangıçlı distoni parkinsonizm"]}},"xrefs":[{"source":"OMIM","code":"612067","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"548945828"},{"source":"MONDO","code":"0012789","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567430","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677567","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10539","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"PRKRA","name":"protein activator of interferon induced protein kinase EIF2AK2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18243799[PMID]","hgnc":"9438","ensembl":"ENSG00000180228","omim":"603424","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"18420150[PMID]_22842711[PMID]_25142429[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18420150[PMID]_22842711[PMID]_25142429[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"18243799[PMID]","terms":[{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null}]}}