{"orpha":276244,"name":"Machado-Joseph disease type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SCA3, Machado type","Spinocerebellar ataxia type 3, Machado type"],"definition":"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276244/","orphanet_url":"https://www.orpha.net/en/disease/detail/276244","names":{"fr":{"name":"Maladie de Machado-Joseph type 3","synonyms":["Ataxie spinocérébelleuse type 3, type Machado","SCA3 type Machado"],"definition":"La maladie de Machado-Joseph type 3 est une sous-forme de la maladie de Machado-Joseph (ASC3/MJ) de gravité moyenne caractérisée par une apparition tardive, une progression lente et une amyotrophie périphérique."},"de":{"name":"Machado-Joseph-Krankheit Typ 3","synonyms":["Ataxie, spinozerebelläre, Typ 3, vom Machado Typ","SCA3, Typ Machado"],"definition":"Der Typ 3 der Machado-Joseph-Krankheit (MJD3), ein Subtyp der Machado-Joseph-Krankheit (SCA3/MJD; s.dort) mit milderem Schweregrad, ist gekennzeichnet durch späten Beginn, langsamere Progredienz und periphere Amyotrophie."},"es":{"name":"Enfermedad de Machado-Joseph tipo 3","synonyms":["Ataxia espinocerebelosa tipo 3, tipo Machado","SCA3 tipo Machado"],"definition":"La enfermedad de Machado-Joseph tipo 3 es un subtipo de la enfermedad de Machado-Joseph (AEC3/enfermedad de MJ, consulte este término) de menor gravedad, caracterizada por una aparición tardía, una progresión más lenta y amiotrofia periférica."},"it":{"name":"Malattia di Machado-Joseph, tipo 3","synonyms":["Atassia spinocerebellare tipo 3, tipo Machado","SCA3, tipo Machado"],"definition":"La malattia di Machado-Jospeh tipo 3 è un sottotipo della malattia di Machado-Joseph (SCA3/MJD; si veda questo termine), di gravità moderata, caratterizzato da esordio tardivo, progressione lenta e amiotrofia periferica."},"nl":{"name":"Ziekte van Machado-Joseph type 3","synonyms":["SCA3, Machado-type","Spinocerebellaire ataxie type 3, Machado-type"],"definition":"Ziekte van Machado-Joseph type 3 is een subtype van ziekte van Machado-Joseph (SCA3 / MJD, zie deze term) die minder ernstig van aard is en gekenmerkt wordt door een laat begin van de ziekte, langzamere progressie en perifere amyotrofie."},"pt":{"name":"Doença de Machado–Joseph, tipo 3","definition":"A doença Machado-Joseph tipo de 3 é um subtipo de doença de Machado-Joseph (SCA3/MJD, ver este termo) de menor gravidade, caracterizado por início tardio, evolução mais lenta e amiotrofias periféricas."},"pl":{"name":"Choroba Machado i Josepha typu 3","synonyms":["Ataksja rdzeniowo-móżdżkowa typu 3, typ Machado","SCA3, typ Machado"]},"cs":{"name":"Machado-Josephova nemoc, typ 3","synonyms":["SCA3, typ Machado","Spinocerebelární ataxie, typ 3, typ Machado"]},"uk":{"name":"Хвороба Мачадо-Жозефа, тип 3","synonyms":["SCA3, тип Мачадо","Спіноцеребеллярна атаксія 3 типу, тип Мачадо"],"definition":"Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy."},"zh":{"name":"Machado-Joseph病3型","synonyms":["Machado型脊髓小脑共济失调3型"],"definition":"Machado-Joseph病3型是Machado-Joseph病(SCA3/MJD，见该词条)的一个亚型，程度较轻，以起病晚、进展缓慢和外周性肌萎缩为特征。"},"tr":{"name":"Machado-Joseph hastalığı tip 3","synonyms":["SCA3, Machado tipi","Spinoserebellar ataksi tip 3, Machado 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":"1540439031"},{"source":"MONDO","code":"0017176","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751670","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":"23994570[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-26","source":"21635785[PMID]_15178224[PMID]_20301375[PMID]_945867[PMID]_14967775[PMID]","terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","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:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Frequent (79-30%)","criteria":null},{"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:0002398","label":"Degeneration of anterior horn cells","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:0002460","label":"Distal muscle weakness","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:0003457","label":"EMG abnormality","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: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: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:0003477","label":"Peripheral axonal neuropathy","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}]}}