{"orpha":284324,"name":"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 7","SCAR7"],"definition":"A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284324/","orphanet_url":"https://www.orpha.net/en/disease/detail/284324","names":{"fr":{"name":"Ataxie spinocérébelleuse autosomique récessive lentement progressive de l'enfant","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 7","SCAR7"],"definition":"Ataxie cérébelleuse autosomique récessive rare d'origine génétique, caractérisée par une ataxie spinocérébelleuse lentement progressive débutant pendant l'enfance et se manifestant par une ataxie des membres et de la marche, des tremblements posturaux, une dysarthrie, des altérations de la perception sensorielle (par exemple, diminution du sens vibratoire), anomalies des mouvements oculaires (nystagmus, poursuite saccadée, apraxie oculomotrice), fasciculations des membres supérieurs et inférieurs, et hyperréflexie avec signe de Babinski positif. L'imagerie cérébrale met en évidence une atrophie du cervelet, du pont de Varole, du vermis du cervelet et de la moelle."},"de":{"name":"Autosomal-rezessive spinozerebelläre Ataxie mit Beginn in der Kindheit, langsam fortschreitend","synonyms":["Autosomal-rezessive spinozerebelläre Ataxie Typ 7","SCAR7"],"definition":"Eine seltene, genetisch bedingte, autosomal-rezessive Kleinhirnataxie, die durch eine langsam fortschreitende spinozerebelläre Ataxie gekennzeichnet ist, die sich im Kindesalter entwickelt und sich durch Gang- und Gliedmaßenataxie, Haltetremor, Dysarthrie, sensorische Veränderungen (z. B. verminderter Vibrationssinn), Augenbewegungsanomalien (Nystagmus, sakkadierte Blickfolgebewegungen, okulomotorische Apraxie), Faszikulationen der oberen und unteren Gliedmaßen und Hyperreflexie mit Babinski-Zeichen äußert. Die Bildgebung des Gehirns zeigt zerebelläre, pontine, vermianische und medulläre Atrophie."},"es":{"name":"Ataxia espinocerebelosa lentamente progresiva de inicio en la infancia autosómica recesiva","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 7","SCAR7"],"definition":"Es una ataxia cerebelosa autosómica recesiva, genética y poco frecuente, caracterizada por ataxia espinocerebelosa lentamente progresiva que se desarrolla en la infancia. Se manifiesta con ataxia de la marcha y apendicular, temblor postural, disartria, alteraciones sensitivas (p. ej. hipopalestesia), anomalías del movimiento ocular (tales como nistagmo, seguimiento ocular sacádico, apraxia oculomotora), fasciculaciones en los miembros superiores e inferiores e hiperreflexia con signo de Babinski. La neuroimagen revela atrofia cerebelosa, pontina, vermiana y bulbar."},"it":{"name":"Atassia spinocerebellare autosomica recessiva a progressione lenta ed esordio infantile","synonyms":["Atassia spinocerebellare autosomica recessiva 7","SCAR7"],"definition":"È un'atassia cerebellare autosomica recessiva rara, di origine genetica, che esordisce nell'infanzia con atassia spinocerebellare a progressione lenta, che si manifesta con andatura atassica e atassia degli arti, tremore posturale, disartria, alterazioni sensoriali (riduzione del senso della vibrazione), anomalie del movimento oculare (nistagmo, movimenti saccadici di inseguimento, aprassia oculomotoria), fascicolazioni negli arti superiori e inferiori, ed iperreflessia con segno di Babinski. Le neuroimmagini evidenziano atrofia del cervelletto, del ponte, del verme e del midollo."},"nl":{"name":"Autosomaal recessieve langzaam ontwikkelende spinocerebellaire ataxie met aanvang in de kinderjaren","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 7","SCAR7"],"definition":"Een zeldzame, genetische, autosomaal recessieve cerebellaire ataxie gekarakteriseerd door progressieve spinocerebellaire ataxie die zich ontwikkelt tijdens de kindertijd en zich manifesteert met gang- en ledemaatataxie, posturale tremor, dysartrie, sensorische veranderingen (e.g. verminderde vibratiezin), anomalieën van de oogbewegingen (i.e. nystagmus, saccadische volgbewegingen, oculomotorische apraxie), fasciculaties in de onderste en bovenste ledematen, en hyperreflexie met teken van Babinski. Beeldvorming van de hersenen toont atrofie van het cerebellum, de pons, de vermis en de medulla."},"pt":{"name":"Ataxia espinocerebelosa lentamente progressiva autossómica recessiva de início na infância"},"pl":{"name":"Autosomalna recesywna wolno postępująca ataksja rdzeniowo-móżdżkowa o początku w wieku dziecięcym","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-7","SCAR7"]},"cs":{"name":"Autozomálně recesivní pomalu progredující spinocerebelární ataxie s nástupem v dětském věku","synonyms":["SCAR7","Autozomálně recesivní spinocerebelární ataxie, typ 7"]},"uk":{"name":"Аутосомно-рецесивна повільно прогресуюча спіноцеребеллярна атаксія, що починається в дитячому віці","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 7","SCAR7"],"definition":"A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy."},"zh":{"name":"儿童起病常染色体隐性遗传缓慢进行性脊髓小脑共济失调","synonyms":["常染色体隐性遗传脊髓小脑共济失调7型"],"definition":"儿童起病的常染色体隐性遗传缓慢进展性小脑性共济失调是一种罕见的遗传性常染色体隐性遗传小脑共济失调，其特征是在儿童期缓慢进行性发展为脊髓小脑共济失调，表现为步态和四肢共济失调、体位性震颤、构音障碍、感觉改变（如振动觉减弱）、眼球运动异常（即眼球震颤、眼球扫视，动眼运动异常），上肢和下肢震颤，伴巴宾斯基征亢进。脑部影像显示小脑、脑桥、蚓部和延髓萎缩。"},"tr":{"name":"Çocukluk-çağında başlayan otozomal resesif yavaş ilerleyici spinoserebellar ataksi","synonyms":["SCAR7","Otozomal çekinik spinoserebellar ataksi tip 7"]}},"xrefs":[{"source":"OMIM","code":"609270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012235","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836474","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12232","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":[{"symbol":"TPP1","name":"tripeptidyl peptidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23418007[PMID]","hgnc":"2073","ensembl":"ENSG00000166340","omim":"607998","loci":["11p15.4"]}],"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":"2018-02-21","source":"21749694[PMID]_15520412[PMID]_23418007[PMID]_26224725[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:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","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:0000641","label":"Dysmetric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002168","label":"Scanning speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}