{"orpha":458798,"name":"Spinocerebellar ataxia type 41","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA41"],"definition":"Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-458798/","orphanet_url":"https://www.orpha.net/en/disease/detail/458798","names":{"fr":{"name":"Ataxie spinocérébelleuse type 41","synonyms":["SCA41"],"definition":"Ataxie cérébelleuse autosomique dominante type III rare qui se caractérise par un déséquilibre et une perte de coordination progressifs, associés à une démarche ataxique chez l'adulte. Des cas de légère atrophie du vermis cérébelleux visible à l'imagerie par résonance magnétique du cerveau ont été rapportés."},"de":{"name":"Ataxie, spinozerebelläre, Typ 41","synonyms":["SCA41"]},"es":{"name":"Ataxia espinocerebelosa tipo 41","definition":"Es una ataxia cerebelosa autosómica dominante tipo III poco frecuente caracterizada por inestabilidad progresiva de inicio en el adulto y pérdida de coordinación junto con marcha atáxica. También se ha descrito atrofia leve del vermis cerebeloso en imágenes de resonancia magnética cerebral."},"it":{"name":"Atassia spinocerebellare tipo 41","definition":"L'atassia spinocerebellare tipo 41 è un sottotipo raro dell'atassia cerebellare autosomica dominate tipo 3, che esordisce nella vita adulta con perdita progressiva dell'equilibrio e della coordinazione, associate ad andatura atassica. La risonanza magnetica del cervello evidenzia una lieve atrofia del verme cerebellare."},"nl":{"name":"Spinocerebellaire ataxie type 41","synonyms":["SCA41"],"definition":"Spinocerebellaire ataxie type 41 is een zeldzame autosomaal dominante cerebellaire ataxie type III, gekenmerkt door aanvang in de volwassenheid van progressieve evenwichtsstoornis en verlies van coördinatie, geassocieerd met een ataxische gang. Bij beeldvorming van de hersenen met magnetische resonantie werd milde atrofie van cerebellaire vermis gerapporteerd."},"pt":{"name":"Ataxia espinocerebelosa tipo 41","synonyms":["SCA41"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typ 41","synonyms":["SCA typ 41"],"definition":"*Ataksja rdzeniowo-móżdżkowa typ 41 to rzadka ataksja móżdżkowa typu III o dziedziczeniu autosomalnym dominującym, która charakteryzuje się postępującymi zaburzeniami równowagi u dorosłych i utratą koordynacji, związaną z chodem ataktycznym. W obrazowaniu mózgu za pomocą rezonansu magnetycznego stwierdza się łagodny zanik robaka móżdżku."},"cs":{"name":"Spinocerebelární ataxie, typ 41","synonyms":["SCA41"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 41","synonyms":["SCA41"],"definition":"Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging."},"zh":{"name":"脊髓小脑共济失调41型","synonyms":["SCA41"],"definition":"41型脊髓小脑共济失调是一种罕见的常染色体显性小脑共济失调Ⅲ型疾病，其特点是成人发病后进行性失衡和协调性丧失，伴有共济失调步态。也有病例报道脑磁共振成像显示小脑皮层轻度萎缩。"},"tr":{"name":"Spinoserebellar ataksi tip 41","synonyms":["SCA41"]}},"xrefs":[{"source":"OMIM","code":"616410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225158","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TRPC3","name":"transient receptor potential cation channel subfamily C member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25477146[PMID]","hgnc":"12335","ensembl":"ENSG00000138741","omim":"602345","loci":["4q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25477146[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25477146[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-23","source":"25477146[PMID]","terms":[{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null}]}}