{"orpha":98755,"name":"Spinocerebellar ataxia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA1"],"definition":"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98755/","orphanet_url":"https://www.orpha.net/en/disease/detail/98755","names":{"fr":{"name":"Ataxie spinocérébelleuse type 1","synonyms":["SCA1"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 1 est une forme d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une dysarthrie, des troubles de l'écriture, une ataxie des membres et en général un nystagmus avec des anomalies des saccades oculaires."},"de":{"name":"Ataxie, spinozerebelläre, Typ 1","synonyms":["SCA1"],"definition":"Die Spinozerebelläre Ataxie Typ 1 (SCA1) ist ein Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Dysarthrie, Schwierigkeiten beim Schreiben, Gliederataxie und meist auch Nystagmus und sakkadische Anomalien."},"es":{"name":"Ataxia espinocerebelosa tipo 1","synonyms":["SCA1"],"definition":"La ataxia espinocerebelosa tipo 1 (SCA1) es un subtipo de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I) caracterizado por disartria, dificultades en la escritura, ataxia en las extremidades, y, con frecuencia, nistagmo y anomalías sacádicas."},"it":{"name":"Atassia spinocerebellare, tipo 1","synonyms":["SCA1"],"definition":"L'atassia spinocerebellare tipo 1 (SCA1) è un sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo I; si veda questo termine), caratterizzata da disartria, difficoltà nello scrivere, atassia degli arti e, spesso, nistagmo e anomalie saccadiche."},"nl":{"name":"Spinocerebellaire ataxie type 1","synonyms":["SCA1"],"definition":"Spinocerebellaire ataxie type 1 (SCA1) is een subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door dysartrie, moeite met schrijven, ataxie van de ledematen en meestal nystagmus en saccadische afwijkingen."},"pt":{"name":"Ataxia espinocerebelosa tipo 1","synonyms":["SCA1"],"definition":"A ataxia espinocerebelosa tipo 1 (SCA1) é um subtipo do ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo), caracterizada por disartria, dificuldades de escrita, ataxia dos membros, e frequentemente nistagmo e movimentos sacádicos dos olhos."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 1","synonyms":["SCA1"]},"cs":{"name":"Spinocerebelární ataxie, typ 1","synonyms":["SCA1"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 1","synonyms":["SCA1"],"definition":"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities."},"zh":{"name":"脊髓小脑共济失调1型","synonyms":["SCA1"],"definition":"脊髓小脑共济失调1型(SCA1)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的一个亚型，以构音障碍、书写困难、肢体共济失调以及常见的眼球震颤和眼球扫视异常为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 1","synonyms":["SCA1"]}},"xrefs":[{"source":"OMIM","code":"164400","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":"2071487961"},{"source":"MONDO","code":"0008119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752120","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4071","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":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"ATXN1","name":"ataxin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10548","ensembl":"ENSG00000124788","omim":"601556","loci":["6p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Worldwide","status":"Validated","source":"20301363[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-19","source":"20301363[PMID]","terms":[{"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":null},{"hpo":"HP:0007928","label":"Abnormal flash visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","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:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030216","label":"Inertia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007001","label":"Loss of Purkinje cells in the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410011","label":"Abnormality of masticatory muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007338","label":"Hypermetric saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}