{"orpha":423275,"name":"Spinocerebellar ataxia type 40","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA40"],"definition":"Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423275/","orphanet_url":"https://www.orpha.net/en/disease/detail/423275","names":{"fr":{"name":"Ataxie spinocérébelleuse type 40","synonyms":["SCA40"],"definition":"L'ataxie spinocérébelleuse type 40 (SCA40) est un sous-type très rare d'ataxie cérébelleuse autosomique dominante type 1. Elle se caractérise par une démarche instable et une dysarthrie survenant à l'âge adulte, suivies par une démarche plus large, une marche ataxique, une dysmétrie oculaire, un tremblement d'intention, une voie saccadée, une hyperréflexie et une dysdiadochokinésie."},"de":{"name":"Ataxie, spinozerebelläre, Typ 40","synonyms":["SCA40"],"definition":"Die spinozerebelläre Ataxie Typ 40 (SCA40) ist ein sehr seltener Subtyp der autosomal-dominanten zerebellären Ataxie Typ 1. Sie ist gekennzeichnet durch das Auftreten von Gangunsicherheit und Dysarthrie im Erwachsenenalter, mit nachfolgendem breitbeinigen Gangbild, Gangataxie, Augendysmetrie, Intentionstremor, skandierender Sprache, Hyperreflexie und Dysdiadochokinese."},"es":{"name":"Ataxia espinocerebelosa tipo 40","synonyms":["SCA40"],"definition":"La ataxia espinocerebelosa tipo 40 (SCA40) es un subtipo muy raro de ataxia cerebelosa autosómica dominante de tipo 1 de inicio en la edad adulta caracterizado por marcha inestable y disartria, seguida de marcha de base amplia, ataxia de la marcha, dismetría ocular, temblor de intención, hiperreflexia y disdiadococinesia."},"it":{"name":"Atassia spinocerebellare, tipo 40","synonyms":["SCA40"],"definition":"L'atassia spinocerebellare tipo 40 (SCA40) è un sottotipo molto raro di atassia cerebellare autosomica dominate tipo 1; è caratterizzata da andatura instabile e disartria e, successivamente, andatura a base allargata e atassica, dismetria oculare, tremore intenzionale, parola scandita, iper-reflessia e disdiadococinesia."},"nl":{"name":"Spinocerebellaire ataxie type 40","synonyms":["SCA40"],"definition":"Spinocerebellaire ataxie type 40 (SCA40) is een zeer zeldzaam subtype van autosomaal dominante cerebellaire ataxie type 1 dat gekarakteriseerd wordt door aanvang in de volwassenheid van instabiele gang en dysartrie, gevolgd door een breedbasisch (wijdbeens) looppatroon, gangataxie, oculaire dysmetrie, intentietremor, scanderende spraak, hyperreflexie en dysdiadochokinese."},"pt":{"name":"Ataxia espinocerebelosa tipo 40","synonyms":["SCA40"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 40","synonyms":["SCA40"]},"cs":{"name":"Spinocerebelární ataxie, typ 40","synonyms":["SCA40"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 40","synonyms":["SCA40"],"definition":"Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis."},"zh":{"name":"脊髓小脑共济失调40型","synonyms":["SCA40"],"definition":"脊髓小脑共济失调40型（SCA40）是常染色体显性小脑共济失调1型的一种非常罕见的亚型，其特征是成人期发作的步态不稳和构音障碍，然后可出现宽步态，步态共济失调，眼辨距困难，意向性震颤，断续言语，反射亢进和运动异常。"},"tr":{"name":"Spinoserebellar ataksi tip 40","synonyms":["SCA40"]}},"xrefs":[{"source":"OMIM","code":"616053","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":"attributed","validated":true},{"source":"MONDO","code":"0014475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518336","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12371","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":"CCDC88C","name":"coiled-coil and HOOK domain protein 88C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25062847[PMID]","hgnc":"19967","ensembl":"ENSG00000015133","omim":"611204","loci":["14q32.11-q32.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25062847[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25062847[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-20","source":"25062847[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","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:0006879","label":"Pontocerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002168","label":"Scanning speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null}]}}