{"orpha":95434,"name":"Autosomal recessive cerebellar ataxia-movement disorder syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCAR4","SCASI"],"definition":"A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95434/","orphanet_url":"https://www.orpha.net/en/disease/detail/95434","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-anomalie du mouvement","synonyms":["SCAR4","SCASI"],"definition":"Une ataxie héréditaire rare caractérisée par une ataxie cérébelleuse progressive associée à une perturbation de la fixation visuelle par des intrusions saccadiques (saccades horizontales hypermétriques avec des oscillations macrosaccadiques, et une augmentation de la vitesse des saccades plus larges). Elle se manifeste par une ataxie progressive de la marche, du tronc et des membres associée à des signes pyramidaux (réflexes tendineux accrus, signe de Babinski), des saccades myocloniques, des fasciculations, une dysarthrie cérébelleuse, une neuropathie axonale sensorimotrice avec une anomalie de la position articulaire, des sensations de vibration, de température et de douleur, des pieds creux, ainsi que des intrusions saccadiques avec des saccades horizontales hypermétriques, des oscillations macrosaccadiques et une augmentation de la vitesse des saccades plus larges, sans autre anomalie du mouvement oculaire."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-Bewegungsstörungen-Syndrom","synonyms":["SCAR4","SCASI"],"definition":"Eine seltene hereditäre Ataxie, die durch eine progressive Kleinhirnataxie gekennzeichnet ist, die mit einer Störung der visuellen Fixation durch sakkadische Intrusionen (überschießende horizontale Sakkaden mit makroakkadischen Oszillationen und erhöhter Geschwindigkeit größerer Sakkaden) einhergeht. Die Patienten zeigen eine progressive Gang-, Rumpf- und Extremitätenataxie mit Pyramidenbahnzeichen (erhöhte Sehnenreflexe und Babinski-Zeichen), myoklonischen Zuckungen, Faszikulationen, zerebellärer Dysarthrie, sensomotorischer axonaler Neuropathie mit beeinträchtigter Gelenkstellung, gestörter Vibrations-, Temperatur- und Schmerzempfindung, Pes cavus und sakkadischen Intrusionen mit charakteristischen überschießenden horizontalen Sakkaden, makroakkadischen Oszillationen und erhöhter Geschwindigkeit größerer Sakkaden, ohne andere Augenbewegungsstörungen."},"es":{"name":"Síndrome de ataxia cerebelosa-trastorno del movimiento autosómico recesivo","synonyms":["SCAR4","SCASI"],"definition":"Es una ataxia hereditaria poco frecuente caracterizada por ataxia cerebelosa progresiva asociada a alteración de la fijación visual por intrusiones sacádicas (sácadas horizontales hipermétricas con oscilaciones macrosacádicas y aumento de la velocidad de las sacadas mayores). Se presenta con ataxia progresiva de la marcha, truncal y de las extremidades junto con signos piramidales (hiperreflexia y signo de Babinski), sacudidas mioclónicas, fasciculaciones, disartria cerebelosa, neuropatía axonal sensitivomotora con alteración de la sensibilidad posicional, vibratoria, térmica y dolorosa, pies cavos, e intrusiones sacádicas con sácadas horizontales hipermétricas características, oscilaciones macrosacádicas y aumento de la velocidad de las sacadas mayores, sin otras alteraciones del movimiento ocular."},"it":{"name":"Sindrome da atassia cerebellare autosomica recessiva e disturbi del movimento","synonyms":["SCAR4","SCASI"],"definition":"La sindrome da atassia cerebellare autosomica recessiva con intrusione saccadica è un'atassia ereditaria rara, caratterizzata da atassia cerebellare progressiva con compromissione della fissazione visiva da parte di intrusioni saccadiche (saccadi orizzontali con overshoot, associate a oscillazioni macrosaccadiche e a un aumento della velocità delle saccadi più ampie). La malattia esordisce con atassia progressiva dell'andatura, del tronco e degli arti, associata a segni piramidali (aumento dei riflessi tendinei e segno di Babinski), scosse miocloniche, fascicolazioni, disartria cerebellare, neuropatia sensitivo-motoria assonale con compromissione delle sensazioni del posizionamento, della vibrazione, della temperatura e dolore nelle articolazioni, piede cavo e intrusioni saccadiche con tipiche saccadi orizzontali con overshoot, oscillazioni macrosaccadiche e aumento della velocità delle saccadi più ampie, in assenza di anomalie del movimento dell'altro occhio."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - bewegingsstoornis-syndroom","synonyms":["SCAR4","SCASI"],"definition":"Een zeldzame, hereditaire ataxie, gekarakteriseerd door progressieve cerebellaire ataxie geassocieerd met verstoring van de visuele fixatie door saccadische intrusies (horizontale saccades met 'overshoot' en met macrosaccadische oscillaties en verhoogde snelheid van grotere saccades). Het presenteert zich met progressieve gang-, romp- en ledemaatataxie met piramidale tekenen (verhoogde peesreflexen en voetzoolreflex volgens Babinski), myoclonische schokbewegingen, fasciculaties, cerebellaire dysartrie, sensomotorische axonale neuropathie met verstoorde waarneming van positie, vibratie, temperatuur en pijn, pes cavus, en saccadische intrusies met typische horizontale saccades met 'overshoot', macrosaccadische oscillaties, en verhoogde snelheid van grotere saccades, zonder andere stoornissen van de oogbeweging."},"pt":{"name":"Síndrome de ataxia cerebelosa autossómica recessiva-doença do movimento"},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa - wtręty sakadyczne","synonyms":["SCAR4","SCASI"]},"cs":{"name":"Syndrom zahrnující autozomálně recesivní cerebelární ataxii a sakadické pohyby očí","synonyms":["SCAR4","SCASI"]},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-рухового розладу","synonyms":["SCAR4","SCASI"],"definition":"A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances."},"zh":{"name":"常染色体隐性小脑共济失调-扫视性侵扰综合征","synonyms":["SCAR4","SCASI"],"definition":"一种罕见的遗传性共济失调，其特征是进行性小脑共济失调，与干扰注视的眼跳侵入（表现为振幅剧烈的高速水平扫视振荡，大眼跳的振荡速度更快）相关，该病表现为进行性步态、躯干和肢体共济失调伴锥体束征（腱反射亢进和巴宾斯基征）、肌阵挛发作、肌束震颤、小脑构音障碍、感觉运动性轴索神经病，伴有本体觉、振动觉、温度觉、痛觉等感觉受损和高弓足，以及扫视侵入，其特征是过度水平扫视眼跳，剧烈振幅扫视，大眼跳的振荡速度更快，不伴其他眼动障碍。"},"tr":{"name":"Otozomal resesif serebellar ataksi-sakkadik intrüzyon sendromu","synonyms":["SCAR4","SCASI"]}},"xrefs":[{"source":"OMIM","code":"607317","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011811","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846492","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4952","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]}],"children":[],"genes":[{"symbol":"VPS13D","name":"vacuolar protein sorting 13 homolog D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29604224[PMID]","hgnc":"23595","ensembl":"ENSG00000048707","omim":"608877","loci":["1p36.22-p36.21"]},{"symbol":"VPS41","name":"VPS41 subunit of HOPS complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33764426[PMID]","hgnc":"12713","ensembl":"ENSG00000006715","omim":"605485","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"29518282[PMID]_29604224[PMID]_31876103[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29518282[PMID]_29604224[PMID]_31876103[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-18","source":"11960835[PMID]_14681893[PMID]","terms":[{"hpo":"HP:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025404","label":"Abnormal visual fixation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007338","label":"Hypermetric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null}]}}