{"orpha":420492,"name":"Adult-onset cervical dystonia, DYT23 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT23","Dystonia 23"],"definition":"A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420492/","orphanet_url":"https://www.orpha.net/en/disease/detail/420492","names":{"fr":{"name":"Dystonie cervicale de l'adulte, type DYT23","synonyms":["DYT23","Dystonie 23"],"definition":"Dystonie isolée génétique rare caractérisée par une dystonie cervicale focale, non progressive, apparaissant à l'âge adulte et se manifestant typiquement par un torticolis, accompagnée parfois d'un léger tremblement de la tête et d'un tremblement essentiel des membres."},"de":{"name":"Zervikale Dystonie mit Beginn im Erwachsenenalter Typ DYT23","synonyms":["DYT23","Dystonie 23"]},"es":{"name":"Distonía cervical de inicio en el adulto tipo DYT23","synonyms":["DYT23","Distonía 23"],"definition":"Es una distonía aislada, genética y poco frecuente, caracterizada por distonía cervical focal no progresiva, de inicio en adultos, que se manifiesta típicamente con tortícolis y, ocasionalmente, acompañada de leve temblor de cabeza y temblor de extremidades de tipo esencial."},"it":{"name":"Distonia cervicale a esordio nell'età adulta, tipo DYT23","synonyms":["DYT23","Distonia 23"],"definition":"La distonia cervicale ad esordio nell'età adulta tipo DYT23 è una distonia genetica rara isolata, che esordisce nell'età adulta con distonia cervicale focale non progressiva, che di solito si manifesta con torcicollo e, occasionalmente, lieve tremore della testa e tremore essenziale degli arti."},"nl":{"name":"Cervicale dystonie met aanvang op volwassen leeftijd, DYT23-type","synonyms":["DYT23","Dystonie 23"],"definition":"Een zeldzame, genetische, geïsoleerde dystonie, gekarakteriseerd door aanvang in de volwassenheid van niet-progressieve, focale cervicale dystonie die zich doorgaans manifesteert met torticollis en occasioneel gepaard gaat met milde hoofdtremor en essentiële tremor van ledematen."},"pt":{"name":"Distonia cervical com início no adulto, tipo DYT23"},"pl":{"name":"Dystonia szyjna o początku w wieku dorosłym, typ DYT23","synonyms":["Dystonia 23","DYT23"]},"cs":{"name":"Cervikální dystonie s nástupem v dospělosti, typ DYT23","synonyms":["DYT23","Dystonie 23"]},"uk":{"name":"Цервікальна дистонія у дорослих, тип DYT23","synonyms":["Дистонія 23","DYT23"],"definition":"A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor."},"zh":{"name":"成年起病颈肌张力障碍DYT23型","synonyms":["张力异常23型"],"definition":"一种罕见的遗传性单发的肌张力障碍，成人期发作，非进行性局灶性颈部肌张力障碍，典型表现为斜颈，偶尔伴有轻度的头部震颤和基本型肢体震颤。"},"tr":{"name":"Erişkin başlangıçlı servikal distoni, DYT23 tipi","synonyms":["DYT23","Distoni 23"]}},"xrefs":[{"source":"OMIM","code":"614860","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3538999","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99663,"name":"OBSOLETE: Vestibular torticollis","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CIZ1","name":"CDKN1A interacting zinc finger protein 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22447717[PMID]","hgnc":"16744","ensembl":"ENSG00000148337","omim":"611420","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8232359[PMID]_21370267[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8232359[PMID]_21370267[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"21370267[PMID]_25296916[PMID]_22447717[PMID]","terms":[{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200085","label":"Limb tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012893","label":"Neck muscle hypertrophy","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:0002356","label":"Writer's cramp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}