{"orpha":352403,"name":"Spectrin-associated autosomal recessive cerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 14","Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome","SCAR14","SPARCA","SPARCA1","Spectrin-associated autosomal recessive cerebellar ataxia type 1"],"definition":"Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to <i>SPTBN2</i> mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352403/","orphanet_url":"https://www.orpha.net/en/disease/detail/352403","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive associée à la spectrine","synonyms":["Ataxie cérébelleuse autosomique récessive type 1 associée à la spectrine","Ataxie spinocérébelleuse autosomique récessive type 14","Ataxie spinocérébelleuse à début infantile avec retard psychomoteur","SCAR14","SPARCA","SPARCA1"],"definition":"Une maladie génétique neurologique rare causée par des mutations du gène <i>SPTBN2</i>. Elle se caractérise par un retard de développement global pendant la petite enfance, suivi par l'apparition pendant l'enfance d'une ataxie de la marche avec une dysmétrie des membres et une dysdiadococinésie, un déficit intellectuel léger à sévère, une atrophie cérébelleuse et des mouvements oculaires anormaux (incluant un strabisme convergent, des saccades hypométriques, des mouvements de poursuite saccadés et une amplitude de mouvement incomplète)."},"de":{"name":"Zerebelläre Ataxie, autosomal-rezessive, Spectrin-assoziierte","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 14","Autosomal-rezessive zerebelläre Ataxie - kognitive Störung","SCAR14","SPARCA","SPARCA1","Spectrin-assoziierte autosomal-rezessive zerebelläre Ataxie Typ 1","Spinozerebelläre Ataxie mit Beginn im Kindesalter und psychomotorischer Retardierung"],"definition":"Die Spectrin-assoziierte autosomal-rezessive Kleinhirnataxie ist eine seltene, genetisch bedingte neurologische Erkrankung, die auf <i>SPTBN2</i>-Mutationen zurückzuführen ist. Sie ist gekennzeichnet durch eine globale Entwicklungsverzögerung im Säuglingsalter, gefolgt von einer im Kindesalter auftretenden Gangataxie mit Dysmetrie der Gliedmaßen und Dysdiadochokinese, leichte bis schwere Intelligenzminderung, Entwicklung einer Kleinhirnatrophie und abnorme Augenbewegungen (einschließlich eines konvergenten Schielens, hypometrischer Sakkaden, ruckartiger Verfolgungsbewegungen und unvollständigem Bewegungsumfang)."},"es":{"name":"Ataxia cerebelosa autosómica recesiva asociada a la espectrina","synonyms":["Ataxia cerebelosa autosómica recesiva asociada a la espectrina tipo 1","Ataxia espinocerebelosa autosómica recesiva tipo 14","SCAR14","SPARCA","SPARCA1","Síndrome de inicio en la lactancia de ataxia espinocerebelosa-retraso psicomotor"],"definition":"La ataxia cerebelosa autosómica recesiva asociada a espectrina es una enfermedad neurológica genética poco frecuente, debida a mutaciones en <i> SPTBN2 </i>, caracterizada por un retraso global del desarrollo en el periodo de lactancia, seguida de ataxia de la marcha de inicio en la infancia con dismetria de extremidades y disdiadococinesia, discapacidad intelectual de leve a grave, desarrollo de atrofia cerebelosa y movimientos oculares anómalos (que incluyen estrabismo convergente, sacadas hipométricas, movimientos de seguimiento con intrusiones sacádicas y rango de movimiento incompleto)."},"it":{"name":"Atassia cerebellare autosomica recessiva associata alla spettrina","synonyms":["Atassia cerebellare autosomica recessiva - deficit cognitivo","Atassia cerebellare autosomica recessiva associata alla spettrina, tipo 1","Atassia spinocerebellare autosomica recessiva, tipo 14","SCAR14","SPARCA","SPARCA1"],"definition":"L'atassia cerebellare autosomica recessiva associata alla spettrina è una malattia neurologica genetica rara, causata da mutazioni nel gene <i>SPTBN2</i> . È caratterizzata da ritardo dello sviluppo globale nel periodo neonatale, seguito da andatura atassica ad esordio infantile, associata a dismetria degli arti e disdiadococinesia, disabilità intellettiva lieve-grave, atrofia cerebellare e anomalie del movimento oculare (strabismo convergente, saccadi ipometriche, movimenti di inseguimento convulsi e limitata capacità di movimento)."},"nl":{"name":"Spectrine-geassocieerde autosomaal recessieve cerebellaire ataxie","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 14","Infantiel optredende spinocerebellaire ataxie - psychomotorische achterstand-syndroom","SCAR14","SPARCA","SPARCA1","Spectrine-geassocieerde autosomaal recessieve cerebellaire ataxie type 1"],"definition":"Spectrinegeassocieerde autosomaal recessieve cerebellaire ataxie is een zeldzame, genetische neurologische ziekte als gevolg van mutaties in <i>SPTBN2</i>, en wordt gekarakteriseerd door algemene ontwikkelingsachterstand in de zuigelingentijd, gevolgd door in de kindertijd aanvangende gangataxie met dysmetrie en dysdiadochokinese van de ledematen, milde tot ernstige intellectuele achterstand, ontwikkeling van cerebellaire atrofie, en abnormale oogbewegingen (waaronder convergent scheelzien, hypometrische saccades, schokkerige volgbewegingen en onvolledig bewegingsbereik)."},"pt":{"name":"Ataxia cerebelosa autossómica recessiva associada à espectrina","synonyms":["SPARCA1","Síndrome de ataxia espinocerebelosa-atraso psicomotor de início na infância","Ataxia cerebelosa autossómica recessiva associada à espectrina tipo 1","Ataxia cerebelosa autossómica recessiva tipo 14","SCAR14","SPARCA"]},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa związana ze spektryną","synonyms":["Autosomalna recesywna ataksja móżdżkowa - defekt poznawczy","Autosomalna recesywna ataksja móżdżkowa związana ze spektryną typu 1","SPARCA","SPARCA1"]},"cs":{"name":"Autozomálně recesivní cerebelární ataxie způsobená mutacemi v genu kódujícím spektrin","synonyms":["SCAR14","SPARCA","SPARCA1","Syndrom zahrnující autozomálně recesivní cerebelární ataxii a kognitivní poruchy","Autozomálně recesivní spinocerebelární ataxie, typ 14","Autozomálně recesivní cerebelární ataxie, typ 1, asociovaná se spektrinem"]},"uk":{"name":"Спектрин-асоційована аутосомно-рецесивна мозочкова атаксія","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 14","Спіноцеребеллярна атаксія та синдром психомоторної затримки, що починається в дитячому віці","SCAR14","SPARCA","SPARCA1","Спектрин-асоційована аутосомно-рецесивна мозочкова атаксія типу 1"],"definition":"Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to <i>SPTBN2</i> mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)."},"zh":{"name":"血影蛋白相关常染色体隐性小脑共济失调","synonyms":["婴儿起病脑桥小脑共济失调-精神运动延迟综合征"],"definition":"血影蛋白相关常染色体隐性小脑共济失调是一种罕见的遗传性神经疾病，由SPTBN2突变导致，其特征是婴儿期整体发育迟缓，随后出现儿童期起病的步态共济失调，伴有肢体辨距困难和膈肌收缩障碍，轻度至重度智力障碍，小脑萎缩，以及异常的眼球运动（包括会聚性斜视、低度扫视、眼球追踪运动急促和运动范围减少）。"},"tr":{"name":"Spektrin-ilişkili otozomal resesif serebellar ataksi","synonyms":["SCAR14","SPARCA","SPARCA1","Otozomal çekinik spinoserebellar ataksi tip 14","Spektrin ilişkili otozomal çekinik serebellar ataksi tip 1","İnfantil başlangıçlı spinoserebellar ataksi-psikomotor gecikme sendromu","Psikomotor gecikmeli infantil başlangıçlı spinoserebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"615386","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706415","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPTBN2","name":"spectrin beta, non-erythrocytic 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23236289[PMID]","hgnc":"11276","ensembl":"ENSG00000173898","omim":"604985","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23236289[PMID]_23838597[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-21","source":"23838597[PMID]_23236289[PMID]_NBK1138[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","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:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","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:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000641","label":"Dysmetric saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008003","label":"Jerky ocular pursuit movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}