{"orpha":139447,"name":"Progressive cavitating leukoencephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare leukodystrophy characterized by acute episodes of infancy/early childhood-onset neurological deficit (including ataxia, dysarthria and seizures) with irritability and opisthotonus followed either by steady deterioration or by alternating periods of rapid progression and prolonged periods of stability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139447/","orphanet_url":"https://www.orpha.net/en/disease/detail/139447","names":{"fr":{"name":"Leucoencéphalopathie cavitaire progressive","definition":"La leucoencéphalopathie cavitaire progressive est caractérisée par des épisodes de déficit neurologique sévère (ataxie, dysarthrie, convulsions) accompagnés d'irritabilité et opisthotonos. Ces épisodes sont suivis soit par une détérioration constante de l'état de l'individu soit par une alternance de périodes de progression rapide de la maladie et de périodes de stabilité prolongées."},"de":{"name":"Leukoenzephalopathie, kavitierende progressive","definition":"Eine seltene Leukodystrophie, die durch akute Episoden neurologischer Defizite (einschließlich Ataxie, Dysarthrie und Krampfanfällen) im Säuglings- und frühen Kindesalter gekennzeichnet ist, begleitet von Reizbarkeit und Opisthotonus, gefolgt entweder von einer stetigen Verschlechterung oder von abwechselnden Phasen schneller Progression und längeren Phasen der Stabilität."},"es":{"name":"Leucoencefalopatía cavitada progresiva","definition":"Es una leucoencefalopatía poco frecuente caracterizada por episodios agudos de inicio en la lactancia/primera infancia de déficit neurológico (ataxia, disartria, crisis epilépticas) con irritabilidad y opistótonos, seguidos de un deterioro progresivo o de períodos alternos de progresión rápida y de estabilidad."},"it":{"name":"Leucoencefalopatia cavitante progressiva"},"nl":{"name":"Progressieve caviterende leuko-encefalopathie","definition":"Een zeldzame leukodystrofie, gekenmerkt door acute episodes van in de zuigelingentijd/vroege kindertijd optredende neurologische functiestoornis (met onder meer ataxie, dysartrie en insulten) met prikkelbaarheid en opisthotonus, gevolgd door ofwel gestage achteruitgang ofwel periodes van snelle progressie afgewisseld met langdurige periodes van stabiliteit."},"pt":{"name":"Leucoencefalopatia cavitante, progressiva"},"pl":{"name":"Postępująca leukoencefalopatia z powstawaniem jam"},"cs":{"name":"Progresivní leukoencefalopatie s kavitacemi"},"uk":{"name":"Прогресуюча кавітаційна лейкоенцефалопатія","definition":"A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability."},"zh":{"name":"进行性空泡性脑白质病","definition":"一种罕见的脑白质病，其特征是神经系统缺损（共济失调、构音困难、惊厥）急性发作，伴易怒和角弓反张，随后病情持续恶化或交替出现快速进展期和长时间稳定期。"},"tr":{"name":"İlerleyici kavitasyonlu lökoensefalopati"}},"xrefs":[{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"340540374"},{"source":"MONDO","code":"0015349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304840","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19918","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NDUFV2","name":"NADH:ubiquinone oxidoreductase core subunit V2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33811136[PMID]","hgnc":"7717","ensembl":"ENSG00000178127","omim":"600532","loci":["18p11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}