{"orpha":99657,"name":"Primary dystonia, DYT2 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT2"],"definition":"A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99657/","orphanet_url":"https://www.orpha.net/en/disease/detail/99657","names":{"fr":{"name":"Dystonie primaire type DYT2","synonyms":["DYT2"],"definition":"La dystonie primaire type DYT2 est caractérisée par une dystonie segmentaire prédominant aux pieds et se manifestant par une posture involontaire."},"de":{"name":"Dystonie, primäre, Typ DYT2"},"es":{"name":"Distonía primaria tipo DYT2","definition":"Es una distonía aislada poco frecuente caracterizada por una distonía segmentaria que afecta principalmente a las extremidades distales y conduce a una postura anómala. Esta enfermedad tiene un curso clínico progresivo y puede convertirse en una distonía generalizada pero, por lo general, sigue siendo leve."},"it":{"name":"Distonia primaria, tipo DYT2"},"nl":{"name":"Primaire dystonie, DYT2-type","synonyms":["DYT2"],"definition":"Een zeldzame geïsoleerde dystonie, gekenmerkt door segmentale dystonie die vooral distale ledematen treft en die leidt tot een abnormale lichaamshouding. Deze ziekte heeft een progressief klinisch verloop en kan evolueren tot gegeneraliseerde dystonie, maar blijft over het algemeen mild."},"pt":{"name":"Distonia primária de torção, autossómica recessiva"},"pl":{"name":"Dystonia pierwotna, typ DYT2","synonyms":["DYT2"]},"cs":{"name":"Primární dystonie, typ DYT2","synonyms":["DYT2"]},"uk":{"name":"Первинна дистонія, тип DYT2","synonyms":["DYT2"],"definition":"A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall."},"zh":{"name":"原发性肌张力障碍DYT2型","synonyms":["DYT2"],"definition":"原发性肌张力障碍DYT2型是以节段性肌张力障碍为特征，主要影响足部的不自主姿势的一种疾病"},"tr":{"name":"Primer distoni, DYT2 tipi","synonyms":["DYT2"]}},"xrefs":[{"source":"OMIM","code":"224500","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":"index","validated":true,"icd11_uri":"1613388310"},{"source":"MONDO","code":"0009141","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9141","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857093","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2028","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":"HPCA","name":"hippocalcin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25799108[PMID]","hgnc":"5144","ensembl":"ENSG00000121905","omim":"142622","loci":["1p35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-17","source":"941766[PMID]_20482602[PMID]_2404852[PMID]_11912106[PMID]_25799108[PMID]","terms":[{"hpo":"HP:0001304","label":"Torsion dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Occasional (29-5%)","criteria":null}]}}