{"orpha":284332,"name":"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 6","SCAR6"],"definition":"A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284332/","orphanet_url":"https://www.orpha.net/en/disease/detail/284332","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive non progressive infantile","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 6","SCAR6"],"definition":"Ataxie cérébelleuse autosomique récessive rare d'origine génétique, caractérisée par une ataxie cérébelleuse non progressive à début infantile, se manifestant par un retard de développement moteur et un retard de langage, une ataxie de la marche, une dysmétrie, une hypotonie, une augmentation des réflexes tendineux profonds et une dysarthrie. Les autres manifestations inconstantes sont un nystagmus modéré du regard latéral, une légère spasticité, des tremblements intentionnels, une petite taille et des pieds plats. L'imagerie cérébrale révèle une atrophie du vermis du cervelet."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie, infantile, nicht-progressive","synonyms":["Autosomal-rezessive spinozerebelläre Ataxie Typ 6","SCAR6"],"definition":"Eine autosomal-rezessive Kleinhirnataxie, die durch eine nicht-progressive zerebelläre Ataxie mit Beginn im Säuglingsalter gekennzeichnet ist. Sie manifestiert sich durch eine verzögerte motorische und sprachliche Entwicklung, Gangataxie, Dysmetrie, Hypotonie, erhöhte tiefe Sehnenreflexe und Dysarthrie. Zu den weiteren variablen Manifestationen gehören mäßiger Nystagmus beim seitlichen Blick, leichte Spastik, Intentionstremor, Kleinwuchs und Pes planus. Die Bildgebung des Gehirns zeigt eine Atrophie des Kleinhirns."},"es":{"name":"Ataxia cerebelosa no progresiva de inicio en la lactancia autosómica recesiva","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 6","SCAR6"],"definition":"Es una ataxia cerebelosa autosómica recesiva, de origen genético y poco frecuente, caracterizada por ataxia cerebelosa no progresiva de inicio en el periodo de lactancia y que se manifiesta con retraso del desarrollo motor y del habla, marcha atáxica, dismetría, hipotonía, aumento de los reflejos osteotendinosos y disartria. Otras manifestaciones variables asociadas incluyen nistagmo moderado de la mirada horizontal, leve espasticidad, temblor de acción, talla baja y pie plano. La neuroimagen revela atrofia del vermis cerebeloso."},"it":{"name":"Atassia cerebellare autosomica recessiva non progressiva a esordio infantile","synonyms":["Atassia spinocerebellare autosomica recessiva 6","SCAR6"],"definition":"È un'atassia cerebellare autosomica recessiva genetica rara, caratterizzata da atassia cerebellare non progressiva ad esordio infantile, che si manifesta con ritardo dello sviluppo motorio e del linguaggio, andatura atassica, dismetria, ipotonia, aumento dei riflessi tendinei profondi e disartria. Altri segni clinici variabili sono il nistagmo moderato nello sguardo laterale, la lieve spasticità, il tremore intenzionale, la bassa statura e il piede piatto. Le neuroimmagini evidenziano atrofia del verme cerebellare."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie met aanvang in de kinderjaren","synonyms":["SCAR6","Autosomaal recessieve spinocerebellaire ataxie type 6"],"definition":"Een zeldzame, genetische, autosomaal recessieve cerebellaire ataxie die gekarakteriseerd wordt door niet-progressieve cerebellaire ataxie met aanvang in de zuigelingentijd, en die zich manifesteert met vertraagde motorische en spraakontwikkeling, gangataxie, dysmetrie, hypotonie, verhoogde diepe peesreflexen, en dysartrie. Bijkomende variabele manifestaties zijn onder meer matige nystagmus bij zijdelingse blik, milde spasticiteit, intentietremor, kleine gestalte en platvoet. Beeldvorming van de hersenen toont atrofie van de vermis cerebelli."},"pt":{"name":"Ataxia cerebelosa não-progressiva autossómica recessiva de início na infância"},"pl":{"name":"Autosomalna recesywna niepostępująca ataksja móżdżkowa o początku w wieku niemowlęcym","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-6","SCAR6"]},"cs":{"name":"Autozomálně recesivní neprogresivní cerebelární ataxie s nástupem v kojeneckém věku","synonyms":["SCAR6","Autozomálně recesivní spinocerebelární ataxie, typ 6"]},"uk":{"name":"Аутосомно-рецесивна інфантильна непрогресуюча мозочкова атаксія","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія типу 6","SCAR6"],"definition":"A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy."},"zh":{"name":"婴幼儿起病常染色体隐性遗传非进行性小脑共济失调","synonyms":["常染色体隐性遗传脊髓小脑共济失调6型"],"definition":"一种罕见的，遗传性常染色体隐性遗传小脑共济失调，以非进行性小脑性共济失调为特征，婴儿期起病，伴运动和言语发育延迟，步态共济失调，辨距不良，肌张力低下，腱反射亢进，构音障碍。其他表现包括侧视时诱发中度眼震、轻度痉挛、意向性震颤、身材矮小和扁平足。脑影像显示小脑蚓部萎缩。"},"tr":{"name":"İnfantil-başlangıçlı otozomal resesif ilerleyici olmayan serebellar ataksi","synonyms":["SCAR6","Otozomal çekinik spinoserebellar ataksi tip 6"]}},"xrefs":[{"source":"OMIM","code":"608029","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011950","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842676","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4954","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-21","source":"12811539[PMID]_4003033[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","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:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null}]}}