{"orpha":98765,"name":"Spinocerebellar ataxia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA4"],"definition":"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98765/","orphanet_url":"https://www.orpha.net/en/disease/detail/98765","names":{"fr":{"name":"Ataxie spinocérébelleuse type 4","synonyms":["SCA4"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 4 est une forme progressive très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie avec neuropathie sensitive."},"de":{"name":"Ataxie, spinozerebelläre, Typ 4","synonyms":["SCA4"],"definition":"Die Spinozerebelläre Ataxie Typ 4 (SCA4) ist ein sehr seltener, progredienter Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Ataxie mit sensorischer Neuropathie."},"es":{"name":"Ataxia espinocerebelosa tipo 4","synonyms":["SCA4"],"definition":"La ataxia espinocerebelosa tipo 4 (SCA4) es un subtipo muy poco común, progresivo e intratable de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I) caracterizado por ataxia con neuropatía sensorial."},"it":{"name":"Atassia spinocerebellare, tipo 4","synonyms":["SCA4"],"definition":"L'atassia spinocerebellare tipo 4 (SCA4) è un sottotipo progressivo, incurabile, molto raro, dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine), caratterizzata da atassia associata a neuropatia sensoriale."},"nl":{"name":"Spinocerebellaire ataxie type 4","synonyms":["SCA4"],"definition":"Spinocerebellaire ataxie type 4 (SCA4) is een zeer zeldzaam progressief en onbehandelbaar subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door ataxie met sensorische neuropathie."},"pt":{"name":"Ataxia espinocerebelosa tipo 4","synonyms":["SCA4"],"definition":"A ataxia espinocerebelosa tipo 4 (SCA4) é um subtipo raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo), progressiva e não-tratável, caracterizada por ataxia com neuropatia sensitiva."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 4","synonyms":["SCA4"]},"cs":{"name":"Spinocerebelární ataxie, typ 4","synonyms":["SCA4"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 4","synonyms":["SCA4"],"definition":"Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy."},"zh":{"name":"脊髓小脑共济失调4型","synonyms":["SCA4"],"definition":"脊髓小脑共济失调4型(SCA4)是一种非常罕见的进行性且无法治疗的I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)，其特征是共济失调伴感觉神经病变。"},"tr":{"name":"Spinoserebellar ataksi tip 4","synonyms":["SCA4"]}},"xrefs":[{"source":"OMIM","code":"600223","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1686006145"},{"source":"MONDO","code":"0010847","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752122","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9970","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":"PLEKHG4","name":"pleckstrin homology and RhoGEF domain containing G4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21267591[PMID]_18293026[PMID]_20301317[PMID]","hgnc":"24501","ensembl":"ENSG00000196155","omim":"609526","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-16","source":"8755926[PMID]","terms":[{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}