{"orpha":276193,"name":"Spinocerebellar ataxia type 35","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA35"],"definition":"An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276193/","orphanet_url":"https://www.orpha.net/en/disease/detail/276193","names":{"fr":{"name":"Ataxie spinocérébelleuse type 35","synonyms":["SCA35"],"definition":"Ataxie cérébelleuse autosomique dominante type 1 caractérisée par une ataxie progressive des membres et de la marche apparaissant à l'âge adulte, une dysarthrie, une dysmétrie oculaire, un tremblement d'intention, une hyperréflexie et un torticolis spasmodique."},"de":{"name":"Ataxie, spinozerebelläre, Typ 35","synonyms":["SCA35"],"definition":"Eine autosomal-dominante zerebelläre Ataxie Typ 1, die im Erwachsenenalter durch progressive Gang- und Gliedmaßenataxie, Dysarthrie, Augendysmetrie, Intentionstremor der Hände, Hyperreflexie und krampfartigen Torticollis gekennzeichnet ist."},"es":{"name":"Ataxia espinocerebelosa tipo 35","definition":"Es una ataxia cerebelosa autosómica dominante de tipo >I caracterizada por un inicio en la edad adulta de ataxia progresiva de la marcha y de las extremidades, disartria, dismetría ocular, temblor intencional de las manos, hiperreflexia y tortícolis espasmódica."},"it":{"name":"Atassia spinocerebellare tipo 35","synonyms":["SCA35"],"definition":"L'atassia spinocerebellare tipo 35 (SCA35) è una forma di atassia cerebellare autosomica dominate tipo I, che esordisce nell'età adulta con atassia progressiva dell'andatura e degli arti, disartria, dismetria oculare, tremore intenzionale delle mani, iperreflessia e torcicollo spasmodico."},"nl":{"name":"Spinocerebellaire ataxie type 35","synonyms":["SCA35"],"definition":"Een autosomaal dominante cerebellaire ataxie type 1 (ADCA type 1), gekarakteriseerd door aanvang in de volwassenheid van progressieve gang- en ledemaatataxie, dysartrie, oculaire dysmetrie, intentietremor van de handen, hyperreflexie en torticollis spasmodica."},"pt":{"name":"Ataxia espinocerebelosa tipo 35","synonyms":["SCA35"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 35","synonyms":["SCA35"]},"cs":{"name":"Spinocerebelární ataxie, typ 35","synonyms":["SCA35"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 35","synonyms":["SCA35"],"definition":"An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis."},"zh":{"name":"脊髓小脑性共济失调35型","synonyms":["SCA35"],"definition":"一种常染色体显性遗传性小脑性共济失调1型，以成人起病的进行性步态和肢体共济失调、构音障碍、眼球运动障碍、手部意向性震颤、反射亢进和痉挛性斜颈为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 35","synonyms":["SCA35"]}},"xrefs":[{"source":"OMIM","code":"613908","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":"1674449075"},{"source":"MONDO","code":"0013485","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888031","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]}],"children":[],"genes":[{"symbol":"TGM6","name":"transglutaminase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16255","ensembl":"ENSG00000166948","omim":"613900","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"30229425[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-21","source":"21106500[PMiD]_25253745[PMID]_NBK1138[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","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:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000641","label":"Dysmetric saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Excluded (0%)","criteria":null}]}}