{"orpha":284271,"name":"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 11","SCAR11"],"definition":"A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284271/","orphanet_url":"https://www.orpha.net/en/disease/detail/284271","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-retard psychomoteur","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 11","SCAR11"],"definition":"Syndrome rare d'ataxie cérébelleuse héréditaire caractérisé par une ataxie spinocérébelleuse à début tardif, se manifestant par des troubles de la marche, une dysarthrie, une ataxie du tronc et des membres de progression lente, ainsi que par des troubles de la poursuite visuelle, associée à des antécédents de retard psychomoteur depuis l'enfance. Une légère atrophie du vermis cérébelleux et des hémisphères est visible à l'imagerie cérébrale."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-psychomotorische Retardierung-Syndrom","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 11","SCAR11"]},"es":{"name":"Síndrome de ataxia cerebelosa autosómica recesiva-retraso psicomotor","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 11","SCAR11"],"definition":"Es un trastorno por ataxia cerebelosa hereditario y poco frecuente caracterizado por ataxia espinocerebelosa de inicio tardío que se manifiesta mediante alteraciones de la marcha lentamente progresivas, disartria, ataxia truncal y de las extremidades y alteración del movimiento ocular de seguimiento lento, asociado a antecedentes clínicos de retraso psicomotor en la infancia. La neuroimagen muestra una ligera atrofia de vermis y de los hemisferios cerebelosos."},"it":{"name":"Atassia cerebellare autosomica recessiva - ritardo psicomotorio","synonyms":["Atassia spinocerebellare autosomica recessiva 11","SCAR11"],"definition":"È una atassia cerebellare ereditaria rara ad esordio tardivo, caratterizzata da atassia spinocerebellare che si evidenzia con anomalie della deambulazione a progressione lenta, disartria, atassia degli arti e del tronco e movimenti oculari di inseguimento lenti, con una storia di ritardo psicomotorio a partire dall'infanzia. Le immagini diagnostiche del cervello evidenziano lieve atrofia del verme cerebellare e degli emisferi."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - psychomotorische achterstand-syndroom","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 11","SCAR11"],"definition":"Een zeldzame, erfelijke, cerebellaire ataxie gekarakteriseerd door laat aanvangende spinocerebellaire ataxie, die zich manifesteert met traag progressieve gangstoornissen, dysartrie, ataxie van ledematen en romp, en verstoorde oogvolgbewegingen, geassocieerd met een geschiedenis van psychomotorische achterstand vanaf de kindertijd. Milde atrofie van de cerebellaire vermis en hemisferen wordt waargenomen bij beeldvorming van de hersenen."},"pt":{"name":"Síndrome de ataxia cerebelosa autossómica recessiva-atraso psicomotor"},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa - opóźnienie psycho-ruchowe","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-11","SCAR11"]},"cs":{"name":"Syndrom zahrnující cerebelární ataxii a psychomotorickou retardaci, autozomálně recesivní","synonyms":["SCAR11","Autozomálně recesivní spinocerebelární ataxie, typ 11"]},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-психомоторної затримки","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 11","SCAR11"],"definition":"A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging."},"zh":{"name":"常染色体隐性小脑共济失调-精神运动迟缓综合征","synonyms":["常染色体隐性遗传脊髓小脑共济失调11型"],"definition":"常染色体隐性遗传小脑共济失调-精神运动发育延迟综合征是一种罕见的遗传性小脑共济失调，以迟发性脊髓小脑共济失调为特征，表现为缓慢进行性步态不稳、构音障碍、肢体和躯干共济失调以及平视跟踪障碍，与儿童期精神运动发育延迟史有关。在脑成像上可以观察到小脑蚓部和半球的轻度萎缩。"},"tr":{"name":"Otozomal resesif serebellar ataksi-psikomotor gecikme sendromu","synonyms":["SCAR11","Otozomal çekinik spinoserebellar ataksi tip 11"]}},"xrefs":[{"source":"OMIM","code":"614229","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190803","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98099,"name":"Autosomal recessive syndromic cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SYT14","name":"synaptotagmin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21835308[PMID]","hgnc":"23143","ensembl":"ENSG00000143469","omim":"610949","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"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":"2018-05-22","source":"21835308[PMID]","terms":[{"hpo":"HP:0000617","label":"Abnormality of ocular smooth pursuit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null}]}}