{"orpha":276241,"name":"Machado-Joseph disease type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SCA3, Thomas type","Spinocerebellar ataxia, Thomas type"],"definition":"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276241/","orphanet_url":"https://www.orpha.net/en/disease/detail/276241","names":{"fr":{"name":"Maladie de Machado-Joseph type 2","synonyms":["Ataxie spinocérébelleuse type Thomas","SCA3 type Thomas"],"definition":"La maladie de Machado-Joseph type 2 est une sous-forme de la maladie de Machado-Joseph (ASC3/MJ) de gravité moyenne caractérisée par un âge moyen d'apparition, une ataxie cérébelleuse et une ophtalmoplégie externe progressive, avec des signes pyramidaux et extrapyramidaux variables."},"de":{"name":"Machado-Joseph-Krankheit Typ 2","synonyms":["Ataxie, spinozerebelläre, Typ Thomas","SCA3, Typ Thomas"],"definition":"Der Typ 2 der Machado-Joseph-Krankheit (MJD2), ein Subtyp der Machado-Joseph-Krankheit (SCA3/MJD; s.dort) mit intermediärem Schweregrad, ist gekennzeichnet durch mittleres Erkrankungsalter, zerebelläre Ataxie, externe progressive Ophthalmoplegie und unterschiedlich schwere pyramidale und extrapyramidale Zeichen."},"es":{"name":"Enfermedad de Machado-Joseph tipo 2","synonyms":["Ataxia espinocerebelosa tipo Thomas","SCA3 tipo Thomas"],"definition":"La enfermedad de Machado-Joseph tipo 2 es un subtipo de la enfermedad de Machado-Joseph (AEC3/enfermedad de MJ, consulte este término) con una gravedad intermedia, caracterizada por una edad intermedia de inicio, ataxia cerebelosa y oftalmoplejía externa progresiva, con síntomas piramidales y extrapiramidales variables"},"it":{"name":"Malattia di Machado-Joseph, tipo 2","synonyms":["Atassia spinocerebellare, tipo Thomas","SCA3, tipo Thomas"],"definition":"La malattia di Machado-Joseph tipo 2 è un sottotipo della malattia di Machado-Joseph (SCA3/MJD; si veda questo termine), di gravità intermedia, caratterizzato da un'età di esordio intermedia, atassia cerebellare e oftalmoplegia progressiva esterna, con segni piramidali ed extrapiramidali variabili."},"nl":{"name":"Ziekte van Machado-Joseph type 2","synonyms":["SCA3, Thomas-type","Spinocerebellaire ataxie, Thomas-type"],"definition":"Ziekte van Machado-Joseph type 2 is een subtype van ziekte van Machado-Joseph (SCA3 / MJD, zie deze term) van intermediair ernstige aard, gekenmerkt door een begin van de ziekte op middelbare leeftijd, cerebellaire ataxie en progressieve externe oftalmoplegie, met variabele piramidale en extrapiramidale tekenen."},"pt":{"name":"Doença de Machado–Joseph, tipo 2","definition":"A doença de Machado-Joseph tipo 2 é um subtipo de doença de Machado-Joseph (SCA3/DMJ, ver este termo) com gravidade intermédia caracterizada por uma idade de início intermédia, ataxia cerebelosa e oftalmoplegia externa progressiva, com sinais piramidais e extrapiramidais variáveis."},"pl":{"name":"Choroba Machado i Josepha typu 2","synonyms":["Ataksja rdzeniowo-móżdżkowa typu 3, typ Thomasa","SCA3, typ Thomasa"]},"cs":{"name":"Machado-Josephova nemoc, typ 2","synonyms":["SCA3, typ Thomas","Spinocerebelární ataxie, typ Thomas"]},"uk":{"name":"Хвороба Мачадо-Жозефа, тип 2","synonyms":["SCA3, тип Томаса","Спіноцеребеллярна атаксія, тип Томаса"],"definition":"Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs."},"zh":{"name":"Machado-Joseph病2型","synonyms":["脊髓小脑共济失调Thomas型"],"definition":"Machado-Joseph病2型是Machado-Joseph病(SCA3/MJD，见该词条)的一个亚型，以中等发病年龄、小脑性共济失调和外源性进行性眼肌麻痹为特征，并伴有不同的锥体和锥体外系体征。"},"tr":{"name":"Machado-Joseph hastalığı tip 2","synonyms":["SCA3, Thomas tipi","Spinoserebellar ataksi, Thomas tipi"]}},"xrefs":[{"source":"OMIM","code":"109150","qualifier":"NTBT","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":"1775824880"},{"source":"MONDO","code":"0017175","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98757,"name":"Spinocerebellar ataxia type 3","classifications":[156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-26","source":"21635785[PMID]_20301375[PMID]_945867[PMID]","terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040140","label":"Degeneration of the striatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007089","label":"Facial-lingual fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011960","label":"Substantia nigra gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000623","label":"Supranuclear ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","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:0008944","label":"Distal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}