{"orpha":101109,"name":"Spinocerebellar ataxia type 28","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA28"],"definition":"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101109/","orphanet_url":"https://www.orpha.net/en/disease/detail/101109","names":{"fr":{"name":"Ataxie spinocérébelleuse type 28","synonyms":["SCA28"],"definition":"L'ataxie spinocérébelleuse type 28 (SCA28) est une forme très rare d'ataxie cérébelleuse autosomique dominante type I (ADCAI). Elle se caractérise par une ataxie cérébelleuse d'apparition juvénile, d'évolution lente, causée par une dégénérescence des cellules de Purkinje."},"de":{"name":"Ataxie, spinozerebelläre, Typ 28","synonyms":["SCA28"],"definition":"Die Spinozerebelläre Ataxie Typ 28 (SCA28) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch im Jugendalter beginnende, langsam progrediente zerebelläre Ataxie im Gefolge einer Degeneration von Purkinje-Zellen."},"es":{"name":"Ataxia espinocerebolosa tipo 28","synonyms":["SCA28"],"definition":"La ataxia espinocerebolosa tipo 28 (SCA28) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por: inicio juvenil y ataxia cerebelosa de progresión lenta debida a la degeneración de las células de Purkinje."},"it":{"name":"Atassia spinocerebellare, tipo 28","synonyms":["SCA28"],"definition":"L'atassia spinocerebellare tipo 28 (SCA28) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da atassia cerebellare a progressione lenta e a esordio giovanile secondaria alla degenerazione delle cellule del Purkinje."},"nl":{"name":"Spinocerebellaire ataxie type 28","synonyms":["SCA28"],"definition":"Spinocerebellaire ataxie type 28 (SCA28) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term). Het is gekenmerkt door langzaam progressieve cerebellaire ataxie op jonge leeftijd door degeneratie van de Purkinjecellen."},"pt":{"name":"Ataxia espinocerebelosa tipo 28","synonyms":["SCA28"],"definition":"A ataxia espinocerebelosa tipo 28 (SCA28) é um subtipo raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada por apresentação juvenil de ataxia cerebelosa lentamente progressiva devido à degenerescência das células de Purkinje."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 28","synonyms":["SCA28"]},"cs":{"name":"Spinocerebelární ataxie, typ 28","synonyms":["SCA28"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 28","synonyms":["SCA28"],"definition":"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration."},"zh":{"name":"脊髓小脑共济失调28型","synonyms":["SCA28"],"definition":"脊髓小脑性共济失调28型(SCA28)是I型常染色体显性遗传性小脑性共济失调(ADCAI型，见该词条)的一种非常罕见的亚型。它的特点是幼年起病，由于浦肯野细胞变性而缓慢进展的小脑性共济失调。"},"tr":{"name":"Spinoserebellar ataksi tip 28","synonyms":["SCA28"]}},"xrefs":[{"source":"OMIM","code":"610246","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2020736035"},{"source":"MONDO","code":"0012450","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853249","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9951","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":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AFG3L2","name":"AFG3 like matrix AAA peptidase subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"315","ensembl":"ENSG00000141385","omim":"604581","loci":["18p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"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":"2018-03-26","source":"16251216[PMID]_20725928[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030186","label":"Kinetic tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}