{"orpha":157941,"name":"Huntington disease-like 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset prion disease with prominent psychiatric features","HDL1"],"definition":"A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157941/","orphanet_url":"https://www.orpha.net/en/disease/detail/157941","names":{"fr":{"name":"Maladie de Huntington-like 1","synonyms":["HDL1","Maladie à prion à début précoce et signes psychiatriques prédominants"],"definition":"Maladie rare à prion humaine, d'origine génétique, caractérisée par l'apparition, à l'âge adulte, de manifestations neurodégénératives associées à des troubles du mouvement et à des troubles du comportement/psychiatriques. Les patients présentent généralement troubles de la personnalité, agressivité, manies, anxiété et/ou dépression, ainsi qu'un déclin cognitif progressif et rapide (se manifestant par une dysarthrie, une apraxie et une aphasie, et évoluant potentiellement vers une démence), une ataxie (se manifestant par des troubles de la marche, une marche instable et des problèmes de coordination), un parkinsonisme, des myoclonies et/ou une chorée. Parmi les autres manifestations figurent spasticité généralisée, convulsions, incontinence urinaire et syndrome pyramidal."},"de":{"name":"Chorea Huntington-ähnliche Krankheit 1","synonyms":["Früh-einsetzende Prionkrankheit mit prominenten psychiatrischen Merkmalen","HDL1"],"definition":"Eine genetisch bedingte Prionenkrankheit des Menschen, die im Erwachsenenalter zu neurodegenerativen Erscheinungen führt, die mit Bewegungsstörungen und psychiatrischen/Verhaltensstörungen einhergehen. Die Patienten zeigen typischerweise Persönlichkeitsveränderungen, Aggressivität, Manien, Angstzustände und/oder Depressionen in Verbindung mit einem rasch fortschreitenden kognitiven Verfall (mit Dysarthrie, Apraxie, Aphasie und schließlich Demenz) sowie Ataxie (mit Gangstörungen, Unsicherheit, Koordinationsproblemen), Parkinsonismus, Myoklonus und/oder Chorea. Weitere Merkmale können generalisierte Spastik, Krampfanfälle, Urininkontinenz und Pyramidenanomalien sein."},"es":{"name":"Enfermedad similar a Huntington, tipo 1","synonyms":["Enfermedad de Huntington-like, tipo 1","Enfermedad priónica de inicio precoz con manifestaciones psiquiátricas destacadas","HDL1"],"definition":"Es una enfermedad priónica humana, genética y poco frecuente, caracterizada por manifestaciones neurodegenerativas de inicio en el adulto asociadas a un trastorno del movimiento y alteraciones psiquiátricas / de la conducta. Por lo general, los pacientes experimentan cambios de personalidad, agresividad, manías, ansiedad y/o depresión acompañadas de un deterioro cognitivo de progresión rápida (que se presenta con disartria, apraxia y afasia que evolucionan eventualmente a demencia), así como ataxia (que se manifiesta con trastornos de la marcha, inestabilidad, problemas de coordinación), parkinsonismo, mioclonías y/o corea. Otros hallazgos adicionales pueden incluir espasticidad generalizada, crisis, incontinencia urinaria y anomalías piramidales."},"it":{"name":"Malattia Huntington-simile 1","synonyms":["HDL1","Malattia da prioni a esordio precoce con predominanza dei segni psichiatrici"],"definition":"È una malattia da prioni, caratterizzata da segni neurodegenerativi ad esordio nell'età adulta, associati a deficit del movimento e disturbi psichiatrici/comportamentali. Di solito i pazienti presentano cambiamenti della personalità, aggressività, manie, ansia e/o depressione, associate a declino cognitivo a progressione rapida (che esordisce con disartria, aprassia, afasia e demenza), atassia (che si manifesta con anomalie della deambulazione, instabilità, problemi di coordinazione), parkinsonismo, mioclono e/o corea. Altri segni clinici sono la spasticità generalizzata, le crisi epilettiche, l'incontinenza urinaria e le anomalie piramidali."},"nl":{"name":"Ziekte van Huntington-achtig 1","synonyms":["HDL1","Vroeg optredende prionziekte met duidelijke psychiatrische kenmerken"],"definition":"Een zeldzame, genetische, humane prionziekte die gekarakteriseerd wordt door aanvang in de volwassenheid van neurodegeneratieve manifestaties geassocieerd met een bewegingsstoornis en psychiatrische/gedragsstoornissen. Doorgaans vertonen patiënten persoonlijkheidsveranderingen, agressie, manieën, angst en/of depressie in combinatie met snel progressieve cognitieve aftakeling (die zich uit met dysartrie, apraxie, afasie, en uiteindelijk leidt tot dementie) alsook ataxie (die zich manifesteert met gangstoornissen, instabiliteit, coördinatieproblemen), parkinsonisme, myoclonus, en/of chorea. Mogelijke bijkomende kenmerken zijn onder meer gegeneraliseerde spasticiteit, insulten, urine-incontinentie en piramidale afwijkingen."},"pt":{"name":"Doença de Huntington-like 1"},"pl":{"name":"Choroba podobna do choroby Huntingtona typu 1","synonyms":["Choroba prionowa o wczesnym początku z wyraźnymi objawami psychicznymi","HDL1"]},"cs":{"name":"Syndrom podobný Huntingtonově chorobě 1","synonyms":["HDL1","Prionové onemocnění s časným nástupem s výraznými psychiatrickými rysy"]},"uk":{"name":"Хвороба Гентингтон-подібна 1","synonyms":["Пріонна хвороба з раннім початком і вираженими психіатричними проявами","HDL1"],"definition":"A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities."},"zh":{"name":"类亨廷顿病1","synonyms":["早发型朊病毒病伴显著精神症状"],"definition":"一种罕见的遗传性人类朊病毒病，其特征是成人起病的神经退行性表现伴运动障碍和精神/行为障碍。患者常表现为人格改变、攻击性、躁狂、焦虑和/或抑郁，同时伴有快速进行性认知下降(表现为构音障碍、失用症、失语症，并最终导致痴呆症)，还伴有共济失调(表现为步态障碍、失衡感和协调问题)、帕金森症、肌阵挛和/或舞蹈症。其他特征可能包括全身痉挛、癫痫、尿失禁和锥体异常。"},"tr":{"name":"Huntington hastalığı-benzeri 1","synonyms":["HDL1","Belirgin psikiyatrik özellikler ile seyreden erken başlangıçlı prion hastalığı"]}},"xrefs":[{"source":"OMIM","code":"603218","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A01.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1606120558"},{"source":"MONDO","code":"0011299","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864112","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280400,"name":"Inherited human prion disease","classifications":[156,181]},{"orpha":306719,"name":"Neurodegenerative disease with chorea","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRNP","name":"prion protein (Kanno blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11593450[PMID]_24275071[PMID]","hgnc":"9449","ensembl":"ENSG00000171867","omim":"176640","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-30","source":"8178825[PMID]","terms":[{"hpo":"HP:0002072","label":"Chorea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","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:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002533","label":"Abnormal posturing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000617","label":"Abnormality of ocular smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006961","label":"Jerky head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008003","label":"Jerky ocular pursuit movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040201","label":"Simultanapraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}