{"orpha":98810,"name":"Paroxysmal non-kinesigenic dyskinesia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Paroxystic non-kinesigenic choreoathetosis"],"definition":"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98810/","orphanet_url":"https://www.orpha.net/en/disease/detail/98810","names":{"fr":{"name":"Dyskinésie non kinésigénique paroxystique","synonyms":["Choréoathétose paroxystique non kinésigénique"],"definition":"La dyskinésie non kinésigénique paroxystique (PNKD) est une forme de dyskinésie paroxystique caractérisée par des crises de mouvements dystoniques ou choréathétotiques déclenchées par le stress, la fatigue, la prise de café ou d'alcool, ou les menstruations."},"de":{"name":"Paroxysmale nicht-kinesiogene Dyskinesie","synonyms":["PNKD","Paroxysmale nicht-kinesiogene Choreoathetose"]},"es":{"name":"Discinesia paroxística no cinesigénica","synonyms":["Coreoatetosis paroxística no cinesigénica"],"definition":"La discinesia paroxística no cinesigenica (PNKD) es una forma de discinesia paroxística (consulte este término), que se caracteriza por ataques de movimientos distónicos o coreoatetósicos provocados por estrés, fatiga, la ingesta de café o alcohol o la menstruación."},"it":{"name":"Discinesia non chinesigenica parossistica","synonyms":["Coreatetosi non chinesigenica parossistica"],"definition":"La discinesia non chinesigenica parossistica (PNKD) è una forma di discinesia parossistica (si veda questo termine), caratterizzata da attacchi di movimenti distonici o coreoatetosici aggravati dallo stress, dall'affaticamento, dall'assunzione di caffè o di alcool o dalle mestruazioni."},"nl":{"name":"Paroxysmale niet-kinesiogene dyskinesie","synonyms":["Paroxystische niet-kinesiogene choreoathetose"],"definition":"Paroxysmale niet-kinesiogene dyskinesie (PNKD) is een vorm van paroxysmale dyskinesie (zie deze term) die wordt gekarakteriseerd door aanvallen van dystonische of choreoathetotische bewegingen uitgelokt door stress, vermoeidheid, inname van koffie of alcohol, of menstruatie."},"pt":{"name":"Discinesia paroxística não-cinesigénica (PNKD)"},"pl":{"name":"Napadowa dyskineza niekinezygenna","synonyms":["Napadowa choreoatetoza niekinezygenna"]},"cs":{"name":"Paroxysmální non-kinezigenní dyskineze","synonyms":["Paroxystická non-kinezigenní choreoatetóza"]},"uk":{"name":"Пароксизмальна некінезигенна дискінезія","synonyms":["Пароксизмальний некінезигенний хореоатетоз"],"definition":"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation."},"zh":{"name":"阵发性非运动诱发性运动障碍","synonyms":["阵发性非运动诱发性舞蹈症"],"definition":"发作性非运动性运动障碍(PNKD)是发作性运动障碍的一种形式(见该词条)，其特征是由于压力、疲劳、咖啡/酒精摄入或月经引起的肌张力障碍或舞蹈样运动的发作。"},"tr":{"name":"Paroksismal kinezijenik olmayan diskinezi","synonyms":["Parokistik kinesigenik olmayan koreoatetoz"]}},"xrefs":[{"source":"OMIM","code":"118800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611147","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0700088","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537181","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1869117","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1431,"name":"Paroxysmal dyskinesia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PNKD","name":"PNKD metallo-beta-lactamase domain containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9153","ensembl":"ENSG00000127838","omim":"609023","loci":["2q35"]},{"symbol":"PRRT2","name":"proline rich transmembrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22902309[PMID]_22209761[PMID]_23398397[PMID]","hgnc":"30500","ensembl":"ENSG00000167371","omim":"614386","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"19289562[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-22","source":"22967746[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007166","label":"Paroxysmal dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Occasional (29-5%)","criteria":null}]}}