{"orpha":2806,"name":"Subacute sclerosing leukoencephalitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dawson encephalitis","SSPE","Subacute inclusion body encephalitis","Subacute sclerosing panencephalitis","Van Bogaert disease","Van Bogaert encephalitis"],"definition":"A rare infectious disease characterized by slowly progressive brain disorder caused by a mutant measles virus, typically affecting children and young adults. The condition leads to cognitive decline, myoclonus, vision loss, and eventually a vegetative state.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2806/","orphanet_url":"https://www.orpha.net/en/disease/detail/2806","names":{"fr":{"name":"Leucoencéphalite sclérosante subaiguë","synonyms":["Encéphalite de Dawson","Encéphalite de Van Bogaert","Encéphalite morbilleuse à inclusions","Maladie de Van Bogaert","Panencéphalite sclérosante subaiguë"],"definition":"Maladie infectieuse rare caractérisée par des troubles cérébraux à progression lente dus à un virus mutant de la rougeole, touchant généralement les enfants et les jeunes adultes. La maladie entraîne un déclin cognitif, des myoclonies, une perte de vision et, à terme, un état végétatif."},"de":{"name":"Leukoenzephalitis, sklerosierende subakute","synonyms":["Dawson-Enzephalitis","Einschlußkörperchen-Enzephalitis, subakute","Subakute sklerosierende Panenzephalitis (SSPE)","Van Bogaert-Enzephalitis","Van-Bogaert-Krankheit"],"definition":"Eine seltene Infektionskrankheit, die durch eine langsam fortschreitende Gehirnstörung gekennzeichnet ist, die durch ein mutiertes Masernvirus verursacht wird und in der Regel Kinder und junge Erwachsene betrifft. Die Krankheit führt zu kognitivem Verfall, Myoklonus, Sehstörungen und schließlich zu einem vegetativen Zustand."},"es":{"name":"Leucoencefalitis esclerosante subaguda","synonyms":["Encefalitis con cuerpos de inclusión subaguda","Encefalitis de Dawson","Encefalitis de Van Bogaert","Enfermedad de Van Bogaert","Panencefalitis esclerosante subaguda (PEES)"],"definition":"Es una enfermedad infecciosa poco frecuente caracterizada por un trastorno cerebral lentamente progresivo causado por un virus mutante del sarampión que, por lo general, afecta a niños y adultos jóvenes. La afección provoca deterioro cognitivo, mioclonías, pérdida de la visión y, finalmente, un estado vegetativo."},"it":{"name":"Leucoencefalite sclerosante subacuta","synonyms":["Malattia di Van Bogaert","Panencefalite sclerosante subacuta"]},"nl":{"name":"Subacute scleroserende leuko-encefalitis","synonyms":["Dawson-encefalitis","SSPE","Subacute inclusielichaampjes-encefalitis","Subacute scleroserende panencefalitis","Van Bogaert-encefalitis","Ziekte van Van Bogaert"],"definition":"Een zeldzame infectieziekte, gekenmerkt door traag progressieve hersenziekte veroorzaakt door een gemuteerd mazelenvirus, die doorgaans kinderen en jonge volwassenen aantast. De aandoening leidt tot cognitieve aftakeling, myoclonus, verlies van gezichtsvermogen, en uiteindelijk een vegetatieve toestand."},"pt":{"name":"Leucoencefalite esclerosante sub-aguda","synonyms":["Doença de Bosin","Doença de Van Bogaert","Encefalite de Dawson","Encefalite de corpos de inclusão","Encefalite de corpos de inclusão, sub-aguda","Leucoencefalite esclerosante","Panencefalite esclerosante sub-aguda","SSPE"],"definition":"Doença infeciosa rara caracterizada por distúrbio cerebral lentamente progressivo causado por um vírus mutante do sarampo, tipicamente afetando crianças e adultos jovens. A condição leva ao declínio cognitivo, mioclonia, perda de visão e, eventualmente, a um estado vegetativo."},"pl":{"name":"Podostre stwardniające zapalenie mózgu","synonyms":["Choroba Van Bogaerta","Podostre wtrętowe zapalenie mózgu","SSPE","Subacute sclerosing panencephalitis","Zapalenie mózgu Dawsona","Zapalenie mózgu Van Bogaerta"]},"cs":{"name":"Subakutní sklerotizující leukoencefalitida","synonyms":["Dawsonova nemoc","SSPE","Subakutní sklerózující panencefalitida","Van Bogaertova nemoc","Van Bogaertova encefalitida","Subakutní encefalitida s inkluzními tělísky"]},"uk":{"name":"Підгострий склерозуючий лейкоенцефаліт","synonyms":["Енцефаліт Доусона","SSPE","Підгострий енцефаліт з тілами включення","Підгострий склерозуючий паненцефаліт","Хвороба Ван-Богарта","Енцефаліт Ван-Богарта"],"definition":"A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex."},"zh":{"name":"亚急性硬化脑白质炎","synonyms":["亚急性包涵体脑炎"]},"tr":{"name":"Subakut sklerozan lökoensefalit","synonyms":["SSPE","Dawson ensefaliti","Van Bogaert hastalığı","Van Bogaert ensefaliti","Subakut sklerozan panensefalit","Subakut inklüzyon vücut ensefaliti"]}},"xrefs":[{"source":"OMIM","code":"260470","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"A81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A45.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1098683540"},{"source":"MONDO","code":"0009835","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0038522","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042297","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98255,"name":"Chronic encephalitis","classifications":[181]},{"orpha":166490,"name":"Infectious disease with epilepsy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.003,"area":"United States","status":"Validated","source":"[EXPERT]_22277189[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"India","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-11-20","source":"32809508[PMID]_31237061[PMID]_30680706[PMID]_38282559[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012672","label":"Akinetic mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430088","label":"Anti-measles antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012424","label":"Chorioretinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010856","label":"EEG with periodic complexes","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010856","label":"EEG with periodic complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033044","label":"Motor regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030891","label":"Periventricular white matter hyperintensities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012709","label":"Abnormal brain choline/creatine ratio by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000397","label":"CSF oligoclonal immunoglobulin G bands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012708","label":"Reduced brain N-acetyl aspartate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}