{"orpha":504476,"name":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CABV syndrome","CANVAS","Cerebellar ataxia with bilateral vestibulopathy syndrome"],"definition":"A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-504476/","orphanet_url":"https://www.orpha.net/en/disease/detail/504476","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse avec neuropathie et aréflexie vestibulaire bilatérale","synonyms":["CANVAS","Syndrome d'ataxie cérébelleuse avec vestibulopathie bilatérale"],"definition":"Ataxie cérébelleuse autosomique récessive syndromique rare, lentement progressive caractérisée par un dysfonctionnement cérébelleux à début tardif (y compris une ataxie de la marche et des membres, un nystagmus et une dysarthrie), une vestibulopathie bilatérale (réflexe vestibulo-oculaire anormal) et une neuropathie sensitive axonale. Les signes cliniques sont inconstants et incluent une toux chronique et un dysfonctionnement du système nerveux autonome. L'IRM peut révéler une atrophie cérébelleuse."},"de":{"name":"Zerebelläre Ataxie-Neuropathie-bilaterale vestibuläre Areflexie-Syndrom","synonyms":["CABV-Syndrom","CANVAS","Zerebelläre Ataxie und bilaterale Vestibulopathie-Syndrom"],"definition":"Eine langsam progrediente autosomal-rezessive syndromale Form der Kleinhirnataxie mit spät einsetzender zerebellärer Dysfunktion (einschließlich Gang- und Gliedmaßenataxie, Nystagmus und Dysarthrie), bilateraler Vestibulopathie (abnormer vestibulo-okulärer Reflex) und axonaler sensorischer Neuropathie. Zu den variablen Merkmalen können chronischer Husten und autonome Funktionsstörungen gehören. Die zerebrale Bildgebung zeigt in der Regel eine Atrophie des Kleinhirns."},"es":{"name":"Síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral","synonyms":["CANVAS","Síndrome CABV","Síndrome de ataxia cerebelosa con vestibulopatía bilateral"],"definition":"Es una ataxia cerebelosa sindrómica autosómica recesiva lentamente progresiva poco frecuente caracterizada por una disfunción cerebelosa de inicio tardío (incluyendo ataxia de la marcha y apendicular, nistagmo y disartria), vestibulopatía bilateral (reflejo vestíbulo-ocular anómalo) y neuropatía axonal sensitiva. Otros hallazgos variables pueden incluir tos crónica y disfunción autónomica. Por lo general, la neuroimagen muestra atrofia cerebelosa."},"it":{"name":"Sindrome atassia cerebellare con neuropatia e areflessia vestibolare bilaterale","definition":"Si tratta di un'atassia cerebellare sindromica rara a progressione lenta e trasmissione autosomica recessiva, caratterizzata da disfunzione cerebellare ad esordio tardivo (atassia dell'andatura e degli arti, nistagmo e disartria), vestibolopatia bilaterale (anomalie del riflesso vestibolo-oculare) e neuropatia sensoriale assonale. I pazienti possono presentare anche tosse cronica e disfunzione del sistema autonomo. Le neuroimmagini di solito mostrano atrofia cerebellare."},"nl":{"name":"Cerebellaire ataxie - neuropathie - bilaterale vestibulaire areflexie-syndroom","synonyms":["CABV-syndroom","CANVAS","Cerebellaire ataxie met bilaterale vestibulopathie-syndroom"],"definition":"Een zeldzame, traag progressieve autosomaal recessieve syndromale cerebellaire ataxie, gekarakteriseerd door laat aanvangende cerebellaire disfunctie (met onder meer ataxie van gang en ledematen, nystagmus, en dysartrie), bilaterale vestibulopathie (abnormale vestibulo-oculaire reflex), en axonale sensorische neuropathie. Mogelijke variabele kenmerken zijn onder meer chronische hoest en autonome disfunctie. Beeldvorming van hersenen toont meestal cerebellaire atrofie."},"pt":{"name":"Síndrome de ataxia cerebelosa com neuropatia e arreflexia vestibular bilateral"},"pl":{"name":"Zespół obustronnej arefleksji narządu przedsionkowego i ataksji móżdżkowej z neuropatią","synonyms":["CABV syndrome","CANVAS","Cerebellar ataxia with bilateral vestibulopathy syndrome"]},"cs":{"name":"Syndrom zahrnující mozečkovou ataxii s neuropatií a bilaterální vestibulární areflexií","synonyms":["CANVAS","Syndrom CABV","Syndrom mozečkové ataxie s bilaterální vestibulopatií"]},"uk":{"name":"Мозочкова атаксія з нейропатією та синдромом двосторонньої вестибулярної арефлексії","synonyms":["CABV-синдром","CANVAS","Мозочкова атаксія з синдромом двосторонньої вестибулопатії"],"definition":"A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."},"zh":{"name":"小脑共济失调伴神经病变和双侧前庭反射综合征","synonyms":["小脑共济失调和双侧前庭病综合征"],"definition":"一种罕见的缓慢进行性常染色体隐性综合征性小脑共济失调，其特点是晚发性小脑功能障碍（包括步态和肢体共济失调、眼球震颤和构音障碍）、双侧前庭病（前庭-眼球反射异常）和轴索感觉神经病。变化特征可能包括慢性咳嗽和自主神经功能障碍。脑成像通常显示小脑萎缩。"},"tr":{"name":"Nöropati ve bilateral vestibüler arefleksi sendromu ile seyreden serebellar ataksi","synonyms":["CANVAS","CABV sendromu","Bilateral vestibülopati sendromu ile seyreden serebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"614575","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044720","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000726747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3281223","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078216","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":207028,"name":"Cerebellar ataxia with peripheral neuropathy","classifications":[156,181]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]}],"children":[],"genes":[{"symbol":"RFC1","name":"replication factor C subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30926972[PMID]","hgnc":"9969","ensembl":"ENSG00000035928","omim":"102579","loci":["4p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25564090[PMID]_30926972[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25564090[PMID]_30926972[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"26669662[PMID]","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","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:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008568","label":"Vestibular areflexia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"}]}}