{"orpha":98809,"name":"Paroxysmal kinesigenic dyskinesia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial PKD","Familial paroxysmal kinesigenic dyskinesia","Paroxysmal kinesigenic choreathetosis"],"definition":"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98809/","orphanet_url":"https://www.orpha.net/en/disease/detail/98809","names":{"fr":{"name":"Dyskinésie paroxystique kinésigénique","synonyms":["Choréoathétose paroxystique kinésigénique","Dyskinésie paroxystique kinésigénique familiale","PKD familiale"],"definition":"La dyskinésie paroxystique kinésigénique (PKD) est une forme de dyskinésie paroxystique (DP) caractérisée par des hyperkinésies involontaires brèves et récurrentes, telles qu'une choréoathétose, un ballisme, une athétose ou une dystonie, déclenchés par des mouvements brusques."},"de":{"name":"Paroxysmale kinesiogene Dyskinesie","synonyms":["Familiäre paroxysmale kinesiogene Dyskinesie","PKD, familiäre","Paroxysmale kinesiogene Choreathetose"]},"es":{"name":"Discinesia paroxística cinesigénica","synonyms":["Coreoatetosis cinesigénica paroxística","Discinesia paroxística cinesigénica familiar","PKD familiar"],"definition":"La discinesia paroxística cinesigética (PKD) es una forma de discinesia paroxística (consulte este término), que se caracteriza por hipercinesias involuntarias breves y recurrentes, como coreoatetosis, balismo, atetosis o distonía, provocadas por movimientos bruscos."},"it":{"name":"Discinesia chinesigenica parossistica","synonyms":["Coreatetosi chinesigenica parossistica","Discinesia chinesigenica parossistica familiare","PKD familiare"],"definition":"La discinesia chinesigenica parossistica (PKD) è una forma di discinesia parossistica (si veda questo termine) caratterizzata da ipercinesie involontarie di breve durata, sotto forma di coreoatetosi, ballismo, atetosi o distonia, scatenate da movimenti improvvisi."},"nl":{"name":"Paroxysmale kinesiogene dyskinesie","synonyms":["Familiale PKD","Familiale paroxysmale kinesiogene dyskinesie","Paroxysmale kinesiogene choreoathetose"],"definition":"Paroxysmale kinesiogene dyskinesie (PKD) is een vorm van paroxysmale dyskinesie (zie deze term) die wordt gekarakteriseerd door terugkerende, kortstondige en onvrijwillige hyperkinesieën zoals choreoathetose, ballisme, athetose of dystonie die worden uitgelokt door plotse bewegingen."},"pt":{"name":"Discinesia paroxística cinesigénica","synonyms":["Coreoatetose paroxística cinesigénica","Discinesia paroxística cinesigénica familiar","PKD familiar"]},"pl":{"name":"Napadowa dyskineza kinezygenna","synonyms":["Familial PKD","Familial paroxysmal kinesigenic dyskinesia","Paroxysmal kinesigenic choreathetosis"]},"cs":{"name":"Paroxysmální kinezigenní dyskineze","synonyms":["Familiární PKD","Familiární paroxysmální kinezigenní dyskineze","Paroxysmální kinezigenní choreoatetóza"]},"uk":{"name":"Пароксизмальна кінезигенна дискінезія","synonyms":["Сімейна пароксизмальна кінезигенна дискінезія","Сімейна ПКД","Пароксизмальний кінезигенний хореатетоз"],"definition":"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements."},"zh":{"name":"阵发性运动诱发性运动障碍","synonyms":["家族性阵发性非运动诱发性运动障碍"],"definition":"发作性运动诱发性运动障碍(PKD)是发作性运动障碍的一种形式，其特征是由突然运动引发的反复出现的短暂的非自主性运动亢进，如手足徐动症、芭蕾舞、肌张力障碍等。"},"tr":{"name":"Paroksismal kinezijenik diskinezi","synonyms":["Ailesel PKD","Paroksismal kinesigenik koreatetoz","Ailesel paroksismal kinesigenik diskinezi"]}},"xrefs":[{"source":"OMIM","code":"128200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611031","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1404801288"},{"source":"MONDO","code":"0044202","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"44202","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868682","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8721","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":1431,"name":"Paroxysmal dyskinesia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KCNA1","name":"potassium voltage-gated channel subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29294000[PMID]","hgnc":"6218","ensembl":"ENSG00000111262","omim":"176260","loci":["12p13.32"]},{"symbol":"KCNJ10","name":"potassium inwardly rectifying channel subfamily J member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38979912[PMID]","hgnc":"6256","ensembl":"ENSG00000177807","omim":"602208","loci":["1q23.2"]},{"symbol":"PRRT2","name":"proline rich transmembrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"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":0.6,"area":"Worldwide","status":"Validated","source":"20301633[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-22","source":"24465263[PMID]_11346027[PMID]","terms":[{"hpo":"HP:0002305","label":"Athetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011157","label":"Focal sensory seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Occasional (29-5%)","criteria":null}]}}