{"orpha":98757,"name":"Spinocerebellar ataxia type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Azorean disease of the nervous system","MJD","Machado disease","Machado-Joseph disease","Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia","SCA3"],"definition":"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98757/","orphanet_url":"https://www.orpha.net/en/disease/detail/98757","names":{"fr":{"name":"Ataxie spinocérébelleuse type 3","synonyms":["MJD","Maladie de Machado-Joseph","SCA3"],"definition":"L'ataxie spinocérébelleuse type 3 (ASC3), aussi connue sous le nom de maladie de Machado-Joseph, est la sous-forme la plus connue d'ataxie cérébelleuse autosomique dominante type 1 (ACAD1), maladie neuro-dégénérative caractérisée par une ataxie, une ophtalmoplégie externe progressive et d'autres manifestations neurologiques."},"de":{"name":"Ataxie, spinozerebelläre, Typ 3","synonyms":["Azoren-Krankheit des Nervensystems","Degeneration, nigro-spino-dentale, mit nukleärer Ophthalmoplegie","MJD","Machado-Joseph-Krankheit","Machado-Krankheit","SCA3"],"definition":"Die Spinozerebelläre Ataxie Typ 3 (SCA3) oder Machado-Joseph-Krankheit, ist der häufigste Untertyp der autosomal-dominanten zerebellären Ataxie Typ 1 (ADCA Typ 1), einer neurodegenerativen Erkrankung mit Ataxie, externer progressiver Ophthalmoplegie und anderen neurologischen Symptomen."},"es":{"name":"Ataxia espinocerebelosa tipo 3","synonyms":["Degeneración nigroespinodental con oftalmoplejía nuclear","EMJ","Enfermedad de Machado","Enfermedad de Machado-Joseph","Enfermedad de las Azores del sistema nervioso","SCA3"],"definition":"La ataxia espinocerebelosa tipo 3 (AEC3), también conocida como enfermedad de Machado-Joseph (MJ), es el subtipo más común de ataxia cerebelosa autosómica dominante tipo 1 (ACAD tipo 1; ver este término), un trastorno neurodegenerativo, y se caracteriza por ataxia, oftalmoplejía externa progresiva y otras manifestaciones neurológicas."},"it":{"name":"Atassia spinocerebellare, tipo 3","synonyms":["Degenerazione nigro-spino-dentata con oftalmoplegia nucleare","Degenerazione nigrostriatale autosomica dominante","MJD","Malattia delle Azzorre con coinvolgimento del sistema nervoso","Malattia di Machado","Malattia di Machado-Joseph","SCA3"],"definition":"L'atassia spinocerebellare tipo 3 (SCA3), nota anche come malattia di Machado-Jospeh, è il sottotipo più comune dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine), un disturbo neurodegenerativo caratterizzato da atassia, oftalmoplegia progressiva esterna ed altri segni neurologici."},"nl":{"name":"Spinocerebellaire ataxie type 3","synonyms":["Azorenziekte van het zenuwstelsel","MJD","Nigro-spino-dentatale degeneratie met nucleaire oftalmoplegie","SCA3","Ziekte van Machado","Ziekte van Machado-Joseph"],"definition":"Spinocerebellaire ataxie type 3 (SCA3), ook bekend als ziekte van Machado-Joseph, is het meest voorkomende subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), een neurodegeneratieve aandoening, en wordt gekarakteriseerd door ataxie, progressieve externe oftalmoplegie, en andere neurologische manifestaties."},"pt":{"name":"Ataxia espinocerebelosa tipo 3","synonyms":["Doença de Machado-Joseph","MJD","SCA3"],"definition":"A ataxia espinocerebelosa tipo 3 (SCA3), também conhecida como doença de Machado-Joseph, é o subtipo mais comum de ataxia cerebelosa autossómica dominante tipo 1 (ADCA tipo 1; ver este termo), como os outros uma doença neurodegenerativa. É caracterizada por ataxia e oftalmoparésia externa progressiva, e outras manifestações neurológicas."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 3","synonyms":["Autosomalnie dominujące zwyrodnienie nigrostriatalne","Azorańska choroba układu nerwowego","Choroba Machado","Choroba Machado i Josepha","MJD"]},"cs":{"name":"Spinocerebelární ataxie, typ 3","synonyms":["MJD","Machadova choroba","Machadova-Josephova choroba","Nigro-spino-dentální degenerace s nukleární oftalmoplegií","SCA3","Autozomálně dominantní striatonigrální degenerace","Azorské onemocnění nervového systému","Machado-Josephova choroba"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 3","synonyms":["Азорська хвороба нервової системи","Хвороба Мачадо","Хвороба Мачадо-Жозефа","MJD","Нігро-спіно-дентальна дегенерація з ядерною офтальмоплегією","SCA3"],"definition":"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations."},"zh":{"name":"脊髓小脑共济失调3型","synonyms":["黑质-脊髓-齿变性伴核性眼肌麻痹"],"definition":"脊髓小脑性共济失调3型(SCA3)，又称Machado-Joseph病，是1型常染色体显性遗传性小脑性共济失调(ADCA1型)最常见的亚型，是一种神经退行性疾病，以共济失调、外源性进行性眼肌麻痹等神经系统表现为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 3","synonyms":["MJD","SCA3","Machado hastalığı","Machado-Joseph hastalığı","Azor sinir sistemi hastalığı","Nükleer oftalmoplejili nigro-spino-dentatal dejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"109150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1991007405"},{"source":"MONDO","code":"0007182","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017827","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024408","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]},{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]}],"children":[{"orpha":276238,"name":"Machado-Joseph disease type 1","type":"Clinical subtype"},{"orpha":276241,"name":"Machado-Joseph disease type 2","type":"Clinical subtype"},{"orpha":276244,"name":"Machado-Joseph disease type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ATXN3","name":"ataxin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7106","ensembl":"ENSG00000066427","omim":"607047","loci":["14q32.12"],"via":{"orpha":276238,"name":"Machado-Joseph disease type 1"}},{"symbol":"ATXN3","name":"ataxin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7106","ensembl":"ENSG00000066427","omim":"607047","loci":["14q32.12"],"via":{"orpha":276241,"name":"Machado-Joseph disease type 2"}},{"symbol":"ATXN3","name":"ataxin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7106","ensembl":"ENSG00000066427","omim":"607047","loci":["14q32.12"],"via":{"orpha":276244,"name":"Machado-Joseph disease type 3"}}],"inheritance":["Autosomal dominant"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Portugal","status":"Validated","source":"21635785[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Japan","status":"Validated","source":"19169038[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-26","source":"20301375[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}