{"orpha":276238,"name":"Machado-Joseph disease type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SCA3, Joseph type","Spinocerebellar ataxia type 3, Joseph type"],"definition":"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276238/","orphanet_url":"https://www.orpha.net/en/disease/detail/276238","names":{"fr":{"name":"Maladie de Machado-Joseph type 1","synonyms":["Ataxie spinocérébelleuse type 3, type Joseph","SCA3 type Joseph"],"definition":"La maladie de Machado-Joseph type 1 est une sous-forme rare, généralement sévère de la maladie de Machado-Joseph (ataxie spinocérébelleuse type 3/maladie de MJ) caractérisée par des signes pyramidaux et extrapyramidaux marqués."},"de":{"name":"Machado-Joseph-Krankheit Typ 1","synonyms":["Ataxie, spinozerebelläre, Typ 3, vom Joseph Typ","SCA3, Typ Joseph","Spinozerebelläre Ataxie Typ 3 vom Joseph-Typ"],"definition":"Der Typ 1 der Machado-Joseph-Krankheit (MJD1), ein seltener, in der Regel schwerer Subtyp der Machado-Joseph-Krankheit (SCA3/MJD), ist gekennzeichnet durch ausgeprägte pyramidale und extrapyramidale Zeichen."},"es":{"name":"Enfermedad de Machado-Joseph tipo 1","synonyms":["Ataxia espinocerebelosa tipo 3, tipo Joseph","SCA3 tipo Joseph"],"definition":"La enfermedad de Machado-Joseph tipo 1 es un subtipo raro, grave por lo general, de la enfermedad de Machado-Joseph (AEC3/enfermedad de MJ, consulte este término) caracterizado por la presencia de síntomas piramidales y extrapiramidales marcados."},"it":{"name":"Malattia di Machado-Joseph, tipo 1","synonyms":["SCA3, tipo Joseph","Atassia spinocerebellare tipo 3, tipo Joseph"],"definition":"La malattia di Machado-Joseph tipo 1 è un sottotipo raro, di solito grave, della malattia di Machado-Joseph (SCA3/MJD; si veda questo termine), caratterizzato dalla presenza di segni piramidali ed extrapiramidali molto accentuati."},"nl":{"name":"Ziekte van Machado-Joseph type 1","synonyms":["SCA3, Joseph-type","Spinocerebellaire ataxie type 3, Joseph-type"],"definition":"Ziekte van Machado-Joseph type 1 is een zeldzaam, meestal ernstig subtype van ziekte van Machado-Joseph (SCA3 / MJD, zie deze term), gekenmerkt door de aanwezigheid van duidelijke piramidale en extrapiramidale tekenen."},"pt":{"name":"Doença de Machado–Joseph, tipo 1","definition":"A doença de Machado-Joseph tipo 1 é um subtipo raro e geralmente grave da doença Machado-Joseph (SCA3/DMJ, ver este termo), caracterizado pela presença de sinais piramidais e extrapiramidais marcados."},"pl":{"name":"Choroba Machado i Josepha typu 1","synonyms":["Ataksja rdzeniowo-móżdżkowa typu 3, typ Josepha","SCA3, typ Josepha"]},"cs":{"name":"Machado-Josephova nemoc, typ 1","synonyms":["SCA3, Josephův typ","Spinocerebelární ataxie, typ 3, Josephův typ"]},"uk":{"name":"Хвороба Мачадо-Жозефа, тип 1","synonyms":["SCA3, тип Джозефа","Спіноцеребеллярна атаксія 3-го типу, тип Джозефа"],"definition":"Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs."},"zh":{"name":"Machado-Joseph病1型","synonyms":["Joseph型脊髓小脑共济失调3型"],"definition":"Machado-Joseph病1型是Machado-Joseph病(SCA3/MJD，见该词条)的一种罕见的亚型，通常病情较严重，以明显的锥体和锥体外系体征为特征。"},"tr":{"name":"Machado-Joseph hastalığı tip 1","synonyms":["SCA3, Joseph tipi","Spinoserebellar ataksi tip 3, Joseph 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":"1094680019"},{"source":"MONDO","code":"0017174","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751668","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","Childhood"],"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:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"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:0002493","label":"Upper motor neuron dysfunction","frequency":"Very frequent (99-80%)","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: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: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}]}}