{"orpha":98811,"name":"Paroxysmal exertion-induced dyskinesia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT18","Dystonia 18","PED"],"definition":"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98811/","orphanet_url":"https://www.orpha.net/en/disease/detail/98811","names":{"fr":{"name":"Dyskinésie paroxystique induite par l'effort","synonyms":["DYT18","Dystonie 18","PED"],"definition":"La dyskinésie paroxystique induite par l'effort (PED) est une forme de dyskinésie paroxystique caractérisée par des crises de dystonie indolores au niveau des extrémités, déclenchées par l'activité physique prolongée."},"de":{"name":"Paroxysmale anstrengungsinduzierte Dyskinesie","synonyms":["DYT18","Dystonie 18","PED"]},"es":{"name":"Discinesia paroxística inducida por el ejercicio","synonyms":["DYT18","Distonía 18"],"definition":"La discinesia paroxística inducida por esfuerzo (PED) es una forma de discinesia paroxística (consulte este término), que se caracteriza por ataques indoloros de distonía de las extremidades provocados por actividades físicas prolongadas."},"it":{"name":"Discinesia parossistica indotta da sforzo","synonyms":["DYT18","Distonia 18","PED"],"definition":"La discinesia parossistica indotta dallo sforzo (PED) è una forma di discinesia parossistica (si veda questo termine), caratterizzata da attacchi indolori di distonia a livello degli arti, scatenati dall'attività fisica prolungata."},"nl":{"name":"Paroxysmale inspanningsgeïnduceerde dyskinesie","synonyms":["DYT18","Dystonie 18","PED"],"definition":"Paroxysmale inspannings-geïnduceerde dyskinesie (PED) is een vorm van Paroxysmale dyskinesie (zie deze term), gekarakteriseerd door pijnloze aanvallen van dystonie in ledematen uitgelokt door langdurige fysieke inspanningen."},"pt":{"name":"Discinesia paroxística induzida por esforço","synonyms":["DYT18","Distonia 18","PED"]},"pl":{"name":"Napadowa dyskineza wywoływana wysiłkiem","synonyms":["Dystonia 18","Napadowa dyskineza wywołana wysiłkiem"]},"cs":{"name":"Paroxyzmální námahová dyskineze","synonyms":["DYT18","Dystonie 18","PED"]},"uk":{"name":"Пароксизмальна дискінезія, спричинена фізичним навантаженням","synonyms":["Дистонія 18","DYT18","PED"],"definition":"Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities."},"zh":{"name":"阵发性劳力诱发性运动障碍","synonyms":["肌张力障碍18型"],"definition":"阵发性运动性运动障碍(PED)是发作性运动障碍的一种形式，其特征是长期的体力活动引发四肢肌张力障碍或无痛性发作。"},"tr":{"name":"Paroksismal efor kaynaklı diskinezi","synonyms":["PED","DYT18","Distoni 18"]}},"xrefs":[{"source":"OMIM","code":"612126","qualifier":"E","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":"1584375934"},{"source":"MeSH","code":"C564288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842534","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10541","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"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"]},{"symbol":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"18577546[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-27","source":"18577546[PMID]_11076005[PMID]","terms":[{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Very frequent (99-80%)","criteria":null},{"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:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001304","label":"Torsion dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}