{"orpha":71517,"name":"Rapid-onset dystonia-parkinsonism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT12","Dystonia 12"],"definition":"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71517/","orphanet_url":"https://www.orpha.net/en/disease/detail/71517","names":{"fr":{"name":"Dystonie-parkinsonisme à début rapide","synonyms":["DYT12","Dystonie 12"],"definition":"La dystonie-parkinsonisme à début rapide (RDP) est une maladie du mouvement très rare, caractérisée par l'installation brutale d'un syndrome parkinsonien et d'une dystonie, et souvent déclenchée par un stress physique ou psychologique."},"de":{"name":"Dystonie-Parkinsonismus mit rapidem Beginn","definition":"Dystonie-Parkinsonismus mit rapidem Beginn (RDP) ist eine sehr seltene Bewegungsstörung mit plötzlichem Beginn von Parkinsonismus und Dystonie, oft ausgelöst durch körperliche oder psychologische Belastung."},"es":{"name":"Distonía-parkinsonismo de inicio rápido","definition":"La distonía-parkinsonismo de inicio rápido (RDP) es un trastorno muy raro del movimiento que se caracteriza por la aparición abrupta de parkinsonismo y distonía, a menudo desencadenados por un estrés físico o psicológico."},"it":{"name":"Distonia - parkinsonismo, a esordio rapido","synonyms":["DYT12","Distonia 12"],"definition":"La distonia-parkinsonismo ad esordio rapido (RDP) è un disturbo del movimento molto raro, caratterizzato da esordio improvviso del parkinsonismo e della distonia, spesso scatenati dallo stress fisico o psichico."},"nl":{"name":"Dystonie-parkinsonisme met snelle aanvang","synonyms":["DYT12","Dystonie 12"],"definition":"Dystonie-parkinsonisme met snelle aanvang (RDP) is een zeer zeldzame bewegingsstoornis die wordt gekarakteriseerd door een plotse aanvang van parkinsonisme en dystonie, vaak uitgelokt door fysieke of psychologische stress."},"pt":{"name":"Distonia-parkinsonismo de início agudo","synonyms":["DYT12","Distonia 12"],"definition":"A distonia-parkinsonismo de início rápido (RDP) é caracterizada por apresentação abrupta de distonia e parkinsonismo em jovens adultos."},"pl":{"name":"Dystonia-parkinsonizm o nagłym początku","synonyms":["Dystonia 12","DYT12"],"definition":"Dystonia-parkinsonizm o nagłym początku (RDP) to bardzo rzadkie zaburzenie ruchu charakteryzujące się nagłym pojawieniem się objawów dystonii i parkinsonizmu, często wywołanych stresem fizycznym lub psychicznym."},"cs":{"name":"Dystonie/parkinsonismus s rychlým nástupem","synonyms":["DYT12","Dystonie 12"]},"uk":{"name":"Швидко прогресуюча дистонія-паркінсонізм","synonyms":["Дистонія 12","DYT12"],"definition":"Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."},"zh":{"name":"快发作性肌张力障碍-帕金森综合征","synonyms":["肌张力障碍12型"]},"tr":{"name":"Hızlı başlangıçlı distoni-parkinson","synonyms":["DYT12","Distoni 12"]}},"xrefs":[{"source":"OMIM","code":"128235","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":"878904788"},{"source":"MONDO","code":"0007496","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538001","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868681","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9628","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083658","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":307052,"name":"Rare genetic parkinsonian disorder","classifications":[156]},{"orpha":68402,"name":"Rare parkinsonian disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"ATP1A3","name":"ATPase Na+/K+ transporting subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"801","ensembl":"ENSG00000105409","omim":"182350","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"17282997[PMID]_15260953[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-08","source":"22030388[PMID]_20482602[PMID]_8255463[PMID]_17282997[PMID]","terms":[{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","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:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very rare (<4-1%)","criteria":null}]}}