{"orpha":589522,"name":"Spinocerebellar ataxia type 46","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA46"],"definition":"A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589522/","orphanet_url":"https://www.orpha.net/en/disease/detail/589522","names":{"fr":{"name":"Ataxie spinocérébelleuse type 46","synonyms":["SCA46"],"definition":"Ataxie cérébelleuse autosomique dominante rare, caractérisée par une ataxie cérébelleuse d'apparition tardive et lentement progressive, associée, de manière inconstante, à une neuropathie axonale sensorielle. Les patients peuvent présenter une ataxie de la démarche et des membres, une dysarthrie, des anomalies de la fonction oculomotrice et un déficit sensoriel distal. L'atrophie cérébelleuse est généralement légère ou absente."},"de":{"name":"Ataxie, spinozerebelläre, Typ 46","synonyms":["SCA46"],"definition":"Eine autosomal-dominante zerebelläre Ataxie, die durch eine langsam progrediente, spät einsetzende zerebelläre Ataxie gekennzeichnet ist, die mit einer sensorischen axonalen Neuropathie kombiniert sein kann. Die Patienten können Gang- und Gliedmaßenataxie, Dysarthrie, abnorme okulomotorische Funktionen und distale sensorische Beeinträchtigungen aufweisen. Eine zerebelläre Atrophie ist in der Regel gering oder nicht vorhanden."},"es":{"name":"Ataxia espinocerebelosa tipo 46","synonyms":["SCA46"],"definition":"Es una ataxia cerebelosa autosómica dominante poco frecuente caracterizada por ataxia cerebelosa lentamente progresiva de inicio tardío, asociada de manera variable a neuropatía axonal sensitiva. Los pacientes pueden presentar ataxia de la marcha y de las extremidades, disartria, anomalías de la función oculomotora y afectación sensitiva distal. La atrofia cerebelosa es típicamente leve o inexistente."},"it":{"name":"Atassia spinocerebellare tipo 46","synonyms":["SCA46"]},"nl":{"name":"Spinocerebellaire ataxie type 46","synonyms":["SCA46"],"definition":"Een zeldzame autosomaal dominante cerebellaire ataxie, gekenmerkt door traag progressieve en laat optredende cerebellaire ataxie, variabel gecombineerd met sensorische axonale neuropathie. Patiënten vertonen mogelijk ataxie van gang en ledematen, dysartrie, abnormale oculomotorische functie, en distale sensorische beperking. Cerebellaire atrofie is doorgaans mild of afwezig."},"pt":{"name":"Ataxia espinocerebelosa tipo 46","synonyms":["SCA46"],"definition":"Ataxia cerebelosa autossómica dominante rara caracterizada por ataxia cerebelosa lentamente progressiva e de início tardio, variavelmente associada a neuropatia axonal sensitiva. Os doentes podem apresentar ataxia da marcha e dos membros, disartria, alterações da função oculomotora anormal e comprometimento sensorial distal. A atrofia cerebelosa é tipicamente leve ou ausente."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typ 46","synonyms":["SCA typ 46"]},"cs":{"name":"Spinocerebelární ataxie typu 46","synonyms":["SCA46"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 46","synonyms":["SCA46"],"definition":"A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent."},"zh":{"name":"Spinocerebellar ataxia type 46","synonyms":["SCA46"]},"tr":{"name":"Spinocerebellar ataxia type 46","synonyms":["SCA46"]}},"xrefs":[{"source":"OMIM","code":"617770","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":"0033481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540404","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":207028,"name":"Cerebellar ataxia with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PLD3","name":"phospholipase D family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29847346[PMID]","hgnc":"17158","ensembl":"ENSG00000105223","omim":"615698","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8595484[PMID]_29847346[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8595484[PMID]_29847346[PMID]"}],"phenotypes":null}