{"orpha":458803,"name":"Spinocerebellar ataxia type 42","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA42"],"definition":"A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-458803/","orphanet_url":"https://www.orpha.net/en/disease/detail/458803","names":{"fr":{"name":"Ataxie spinocérébelleuse type 42","synonyms":["SCA42"],"definition":"Ataxie cérébelleuse autosomique dominante rare caractérisée par des signes d'atteinte cérébelleuse pure et lentement progressive, associant une instabilité posturale, une dysarthrie, un nystagmus, des saccades oculaires et une diplopie. Parmi les symptômes et signes cliniques moins fréquents figurent une spasticité, une hyperréflexie, une diminution de la sensibilité vibratoire distale, une urgence mictionnelle ou une incontinence et des tremblements posturaux."},"de":{"name":"Ataxie, spinozerebelläre, Typ 42","synonyms":["SCA42"]},"es":{"name":"Ataxia espinocerebelosa tipo 42","definition":"La ataxia espinocerebelosa tipo 42, es una ataxia cerebelosa autosómica dominante poco frecuente, caracterizada por signos cerebelosos puros y lentamente progresivos que combinan inestabilidad de la marcha, disartria, nistagmo, movimientos oculares sacádicos y diplopía. Entre los signos y síntomas clínicos menos frecuentes se incluyen espasticidad, hiperreflexia, disminución de la sensibilidad vibratoria distal, urgencia o incontinencia urinaria y temblor postural."},"it":{"name":"Atassia spinocerebellare tipo 42","definition":"L'atassia spinocerebellare tipo 42 è un sottotipo raro di atassia cerebellare autosomica dominate, caratterizzato da segni cerebellari puri a progressione lenta, che comprendono l'instabilità dell'andatura, la disartria, il nistagmo, i movimenti oculari saccadici e la diplopia. Sono meno comuni la spasticità, l'iperreflessia, la riduzione del senso della vibrazione distale, l'urgenza minzionale o l'incontinenza e il tremore posturale."},"nl":{"name":"Spinocerebellaire ataxie type 42","definition":"Spinocerebellaire ataxie type 42 is een zeldzame, autosomaal dominante cerebellaire ataxie die gekarakteriseerd wordt door zuivere en traag progressieve cerebellaire tekenen met combinatie van instabiele gang, dysartrie, nystagmus, saccadische oogbewegingen en diplopie. Minder frequente klinische tekenen en symptomen zijn onder meer spasticiteit, hyperreflexie, verminderde distale vibratiezin, urinaire urgentie of incontinentie, en posturale tremor."},"pt":{"name":"Ataxia espinocerebelosa tipo 42","synonyms":["SCA42"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typ 42","synonyms":["SCA typ 42"],"definition":"*Ataksja rdzeniowo-móżdżkowa typ 42 jest rzadką, ataksją móżdżkową o dziedziczeniu autosomalnym dominującym, która charakteryzuje się izolowanymi i wolno postępującymi objawami móżdżkowymi, na które składają się niestabilność chodu, dyzartria, oczopląs, sakadyczne ruchy gałki ocznej i podwójne widzenie. Rzadziej występujące objawy podmiotowe i przedmiotowe to spastyczność, wygórowane odruchy, osłabienie dystalnego czucia wibracji, nagłe parcie na mocz lub nietrzymanie moczu oraz drżenie ciała."},"cs":{"name":"Spinocerebelární ataxie, typ 42","synonyms":["SCA42"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 42","synonyms":["SCA42"],"definition":"A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor."},"zh":{"name":"脊髓小脑共济失调42型","synonyms":["SCA42"],"definition":"42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，其特点是单纯而缓慢进行性的小脑体征，合并步态不稳、构音困难、眼球震颤、眼扫视运动和复视。较少见的临床症状和体征包括痉挛、反射亢进、远端振动感减弱、尿急或尿失禁和姿势性震颤。"},"tr":{"name":"Spinoserebellar ataksi tip 42","synonyms":["SCA42"]}},"xrefs":[{"source":"OMIM","code":"616795","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014776","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225205","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]},{"orpha":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"CACNA1G","name":"calcium voltage-gated channel subunit alpha1 G","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26456284[PMID]_26715324[PMID]","hgnc":"1394","ensembl":"ENSG00000006283","omim":"604065","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"26456284[PMID]_26715324[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26456284[PMID]_26715324[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-23","source":"26456284[PMID]_26715324[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031166","label":"Eyelid myokymia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002511","label":"Alzheimer disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000571","label":"Hypometric saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012708","label":"Reduced brain N-acetyl aspartate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}