{"orpha":370103,"name":"Primary dystonia, DYT17 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370103/","orphanet_url":"https://www.orpha.net/en/disease/detail/370103","names":{"fr":{"name":"Dystonie primaire type DYT17","definition":"Dystonie génétique isolée rare qui se manifeste initialement par un torticolis et qui évolue vers une dystonie segmentaire ou généralisée. Par ailleurs, une dysphonie et une dysarthrie apparaissent plus tard au cours de l'évolution de la maladie."},"de":{"name":"Dystonie, primäre, Typ DYT17"},"es":{"name":"Distonía primaria tipo DYT17","definition":"Es una distonía genética, poco frecuente y aislada, que se presenta inicialmente como tortícolis y que progresa hacia una distonía segmentaria o generalizada. También se producen disfonía y disartria posteriormente en el curso de la enfermedad."},"it":{"name":"Distonia primitiva tipo DYT17","definition":"La distonia primitiva tipo DYT17 è una distonia isolata genetica rara, che esordisce con torcicollo e, successivamente, progredisce nella distonia segmentale o generalizzata. Con la progressione della malattia, i pazienti presentano disfonia e disartria."},"nl":{"name":"Primaire dystonie, DYT17-type","definition":"Primaire dystonie, DYT17 type is een zeldzame, genetische, geïsoleerde dystonie die zich initieel presenteert als torticollis en later evolueert naar segmentale of gegeneraliseerde dystonie. Later in het ziekteverloop komen ook dysfonie en dysartrie voor."},"pt":{"name":"Distonia primária, tipoDYT17"},"pl":{"name":"Dystonia pierwotna, typ DYT17","definition":"*Dystonia pierwotna, typ DYT17, jest rzadką, genetycznie uwarunkowaną, izolowaną dystonią, która początkowo objawia się kręczem szyi, a następnie przechodzi w segmentalną lub uogólnioną dystonię. W późniejszym okresie choroby pojawia się dysfonia oraz dyzartria."},"cs":{"name":"Primární dystonie, typ DYT17"},"uk":{"name":"Первинна дистонія, тип DYT17","definition":"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course."},"zh":{"name":"原发性肌张力障碍DYT17型","definition":"原发性肌张力障碍DYT17型是一种罕见的遗传性孤立性肌张力障碍，其初始表现为斜颈，后期可发展为节段性或全身性肌张力障碍。发音困难和构音障碍也会在病程中出现。"},"tr":{"name":"Primer distoni, DYT17 tipi"}},"xrefs":[{"source":"OMIM","code":"612406","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012895","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190526","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DYT17","name":"dystonia 17","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18688663[PMID]","hgnc":"35416","ensembl":null,"omim":null,"loci":["20p11.22-q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"18688663[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18688663[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"18688663[PMID]_24952478[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Excluded (0%)","criteria":null}]}}