{"orpha":391343,"name":"Fatal post-viral neurodegenerative disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391343/","orphanet_url":"https://www.orpha.net/en/disease/detail/391343","names":{"fr":{"name":"Maladie neurodégénérative fatale post-virale","definition":"Maladie neuro-inflammatoire rare caractérisée par l'apparition d'une ataxie, d'une dysarthrie et de modifications de la substance blanche cérébrale après une infection virale. Une neurodégénérescence progressive épisodique (se manifestant par une perte des capacités motrices et verbales, une faiblesse musculaire, une dégénérescence plus avancée de la substance blanche cérébrale aboutissant au décès du patient) s'observe, en l'absence d'hématopathologie, de surproduction de cytokines, de fièvre, d'hypertriglycéridémie, d'hypofibrinogénémie et d'hyperferritinémie."},"de":{"name":"Fatale post-virale neurodegenerative Störung"},"es":{"name":"Trastorno neurodegenerativo postviral letal","definition":"Es una enfermedad neuroinflamatoria poco frecuente, caracterizada por la aparición de ataxia, disartria y cambios en la sustancia blanca cerebral desencadenados por una infección viral. Se observa neurodegeneración episódica progresiva (que se manifiesta con pérdida de las habilidades motoras y verbales, debilidad muscular, degeneración adicional de la sustancia blanca cerebral y, eventualmente, fallecimiento), en ausencia de hematopatología, sobreproducción de citoquinas, fiebre, hipertrigliceridemia, hipofibrinogenemia e hiperferritinemia."},"it":{"name":"Malattia neurodegenerativa letale post-virale","definition":"La malattia neurodegenerativa letale post-virale è una condizione neuro-infiammatoria rara, caratterizzata da atassia, disartria ed alterazioni della sostanza bianca, scatenate da un'infezione virale. I pazienti presentano una degenerazione neurologica episodica progressiva (che esordisce con la perdita delle competenze motorie e verbali, debolezza muscolare e un'ulteriore degenerazione della sostanza bianca ad esito letale), in assenza di emopatie, iperproduzione di citochine, febbre, ipertrigliceridemia, ipofibrinogenemia ed iperferritinemia."},"nl":{"name":"Fatale postvirale neurodegeneratieve aandoening","definition":"Fatale post-virale neurodegeneratieve stoornis is een zeldzame neuroinflammatoire ziekte die wordt gekarakteriseerd door aanvang van ataxie, dysartrie en veranderingen van de cerebrale witte stof, uitgelokt door virale infectie. Er wordt episodische progressieve neurodegeneratie waargenomen (die zich manifesteert met verlies van motorische en verbale vaardigheden, spierzwakte, verdere degeneratie van cerebrale witte stof, en tenslotte de dood), in afwezigheid van hematopathologie, overproductie van cytokinen, koorts, hypertriglyceridemie, hypofibrinogenemie en hyperferritinemie."},"pt":{"name":"Doença neurodegenerativa pós-viral, forma fatal"},"pl":{"name":"Śmiertelne powirusowe zaburzenie neurodegeneracyjne","definition":"*Śmiertelne powirusowe zaburzenie neurodegeneracyjne jest rzadką chorobą infekcyjną układu nerwowego, która charakteryzuje się wystąpieniem ataksji, dysartii i zmian w istocie białej mózgu, które są wywoływane przez infekcję wirusową. Sporadycznie występująca postępująca neurodegeneracja (objawiająca się utratą zdolności ruchowych i werbalnych, osłabieniem mięśni, dalszym zwyrodnieniem istoty białej mózgu i ostatecznie śmiercią), bez patologicznych zmian w układzie krwiotwórczym, bez wzmożonej produkcji cytokin, gorączki, hipertriglicerydemii, hipofibrynogenemii i hiperferrytynemii."},"cs":{"name":"Fatální postvirové neurodegenerativní onemocnění"},"uk":{"name":"Фатальний поствірусний нейродегенеративний розлад","definition":"A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia."},"zh":{"name":"致命病毒感染后神经退行性疾病","definition":"致死性病毒后神经退行性疾病是一种罕见的神经炎症性疾病，其特征是由病毒感染引起的共济失调、构音障碍和脑白质改变。在没有血液病理学、细胞因子过多、发热、高甘油三酯血症、低纤维蛋白原血症和高铁素血症的情况下，可以观察到发作性进行性神经变性(表现为运动和语言技能丧失和肌无力，可进一步出现脑白质变性，最终导致死亡)。"},"tr":{"name":"Fatal post-viral nörodejeneratif bozukluk"}},"xrefs":[{"source":"ICD-10","code":"G04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102005,"name":"Brain inflammatory disease","classifications":[181]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"PRF1","name":"perforin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23443029[PMID]","hgnc":"9360","ensembl":"ENSG00000180644","omim":"170280","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23443029[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}