{"orpha":98759,"name":"Spinocerebellar ataxia type 17","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HDL4","Huntington disease-like 4","SCA17"],"definition":"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98759/","orphanet_url":"https://www.orpha.net/en/disease/detail/98759","names":{"fr":{"name":"Ataxie spinocérébelleuse type 17","synonyms":["HDL4","Maladie de Huntington-like 4","SCA17"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 17 est une forme rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par un tableau clinique variable pouvant comporter une démence, des troubles psychiatriques, un syndrome parkinsonien, une dystonie, une chorée, une spasticité et une épilepsie."},"de":{"name":"Ataxie, spinozerebelläre, Typ 17","synonyms":["Chorea Huntington-ähnliche Krankheit 4","HDL4","SCA17"],"definition":"Die Spinozerebelläre Ataxie Typ 17 (SCA17) ist ein seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch die Verschiedenheit der klinischen Ausprägungen mit Demenz, psychiatrischen Störungen, Parkinsonismus, Dystonie, Chorea, spastischer Parese und Epilepsie."},"es":{"name":"Ataxia espinocerebelosa tipo 17","synonyms":["Enfermedad similar a Huntington, tipo 4","HDL4","SCA17"],"definition":"La ataxia espinocerebelosa tipo 17 (SCA17) es un subtipo poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por un cuadro clínico variable que puede incluir demencia, alteraciones psiquiátricas, parkinsonismo, distonía, corea, espasticidad y epilepsia."},"it":{"name":"Atassia spinocerebellare, tipo 17","synonyms":["HDL4","Malattia Huntington-simile 4","SCA17"],"definition":"L'atassia spinocerebellare tipo 17 (SCA17) è un raro sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da un quadro clinico variabile, che può comprendere la demenza, i disturbi psichiatrici, il parkinsonismo, la distonia, la corea, la spasticità e l'epilessia."},"nl":{"name":"Spinocerebellaire ataxie type 17","synonyms":["HDL4","SCA17","Ziekte van Huntington-achtig 4"],"definition":"Spinocerebellaire ataxie type 17 (SCA17) is een zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door een variabel klinisch beeld waarin onder meer dementie, psychiatrische aandoeningen, parkinsonisme, dystonie, chorea, spasticiteit en epilepsie kunnen voorkomen."},"pt":{"name":"Ataxia espinocerebelosa tipo 17","synonyms":["Doença de Huntington-like 4","HDL4","SCA17"],"definition":"A ataxia espinocerebelosa tipo 17 (SCA17) é um subtipo raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada por um quadro clínico variável que pode incluir demência, alterações psiquiátricos, parkinsonismo, distonia, coreia, espasticidade e epilepsia."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 17","synonyms":["Choroba podobna do choroby Huntingtona 4","HDL4","SCA17"]},"cs":{"name":"Spinocerebelární ataxie, typ 17","synonyms":["HDL4","Huntingtonská fenokopie 4","SCA17"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 17","synonyms":["HDL4","Гентингтон-подібна хвороба 4","SCA17"],"definition":"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."},"zh":{"name":"脊髓小脑共济失调17型","synonyms":["亨廷顿病样疾病4型"],"definition":"脊髓小脑性共济失调17型(SCA17)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该术语)的罕见亚型。临床表现多种多样，包括痴呆症、精神障碍、帕金森症、肌张力障碍、舞蹈病、痉挛和癫痫。"},"tr":{"name":"Spinoserebellar ataksi tip 17","synonyms":["HDL4","SCA17","Huntington hastalığı-benzeri 4"]}},"xrefs":[{"source":"OMIM","code":"607136","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":"1173627424"},{"source":"MONDO","code":"0011781","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564616","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846707","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10469","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]},{"orpha":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"TBP","name":"TATA-box binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11588","ensembl":"ENSG00000112592","omim":"600075","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.047,"area":"Japan","status":"Validated","source":"12116198[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"United Kingdom","status":"Validated","source":"16223509[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-24","source":"20301611[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012082","label":"Cerebellar Purkinje layer atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007058","label":"Generalized cerebral atrophy/hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Frequent (79-30%)","criteria":null}]}}