{"orpha":284289,"name":"Adult-onset autosomal recessive cerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 10","SCAR10"],"definition":"A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284289/","orphanet_url":"https://www.orpha.net/en/disease/detail/284289","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive de l'adulte","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 10","SCAR10"],"definition":"Ataxie cérébelleuse autosomique récessive rare d'origine génétique, caractérisée par une ataxie spinocérébelleuse à progression lente débutant à l'âge adulte et se manifestant par une ataxie appendiculaire et une ataxie de la marche, une dysarthrie, des anomalies des mouvements oculaires (par exemple, nystagmus horizontal, vertical et/ou battant vers le bas [downbeat], saccades hypermétriques), une augmentation des réflexes tendineux profonds et un déclin cognitif progressif. Les autres caractéristiques inconstantes peuvent inclure des fasciculations et une diminution de la masse des muscles proximaux de la jambe, des pieds creux, un stridor inspiratoire, une dégénérescence rétinienne et des cataractes. L'imagerie cérébrale met en évidence une atrophie cérébelleuse marquée, et l'électromyographie révèle des signes d'atteinte des motoneurones inférieurs."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie mit Beginn im Erwachsenenalter","synonyms":["Autosomal-rezessive spinozerebelläre Ataxie Typ 10","SCAR10"],"definition":"Eine seltene, genetisch bedingte, autosomal-rezessive Kleinhirnataxie, die sich im Erwachsenenalter durch eine langsam fortschreitende spinozerebelläre Ataxie mit Gang- und appendikulärer Ataxie, Dysarthrie, Augenbewegungsanomalien (z. B. horizontaler, vertikaler und/oder abwärts gerichteter Nystagmus, hypermetrische Sakkaden), verstärkte tiefe Sehnenreflexe und fortschreitenden kognitiven Verfall äußert. Weitere variable Merkmale können Muskelschwund und Faszikulationen der proximalen Beinmuskulatur, Pes cavus, inspiratorischer Stridor, Epilepsie, Netzhautdegeneration und Katarakte sein. Die Bildgebung des Gehirns zeigt eine ausgeprägte Atrophie des Kleinhirns und die Elektromyographie weist auf eine Beteiligung der unteren Motoneuronen hin."},"es":{"name":"Ataxia cerebelosa autosómica recesiva de inicio en el adulto","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 10","SCAR10"],"definition":"Es una ataxia cerebelosa autosómica recesiva, genética y poco frecuente, caracterizada por ataxia espinocerebelosa de inicio en la edad adulta y lentamente progresiva, que se manifiesta con ataxia de la marcha y apendicular, disartria, anomalías de los movimientos oculares (p. ej. nistagmo horizontal, vertical y/o nistagmo vertical hacia abajo, movimientos sacádicos hipermétricos), aumento de los reflejos osteotendinosos y deterioro cognitivo progresivo. Características adicionales variables pueden incluir atrofia y fasciculaciones de la musculatura proximal de las piernas, pie cavo, estridor inspiratorio, epilepsia, degeneración retiniana y cataratas. La neuroimagen revela una marcada atrofia cerebelosa y la electromiografía evidencia una afectación de la motoneurona inferior."},"it":{"name":"Atassia cerebellare autosomica recessiva a esordio nell'età adulta","synonyms":["SCAR10","Atassia spinocerebellare autosomica recessiva 10"],"definition":"È un'atassia cerebellare autosomica recessiva rara, di origine genetica, che esordisce nell'età adulta con atassia spinocerebellare a progressione lenta, associata ad atassia appendicolare e andatura atassica, disartria, anomalie dei movimenti oculari (ad es. nistagmo orizzontale, verticale e/o verticale verso il basso, e saccadi ipermetriche), aumento dei riflessi tendinei profondi e declino cognitivo progressivo. Altri segni clinici variabili sono l'atrofia muscolare e le fascicolazioni della porzione prossimale delle gambe, il piede cavo, lo stridore inspiratorio, l'epilessia, la degenerazione retinica e la cataratta. Le neuroimmagini evidenziano una marcata atrofia cerebellare, mentre l'elettromiografia mostra un coinvolgimento dei motoneuroni inferiori."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie met aanvang in de volwassenheid","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 10","SCAR10"],"definition":"Een zeldzame, genetische, autosomaal recessieve cerebellaire ataxie die gekarakteriseerd wordt door aanvang in de volwassenheid van traag progressieve spinocerebellaire ataxie, en die zich manifesteert met gang- en appendiculaire ataxie, dysartrie, anomalieën va de oogbeweging (e.g. horizontale, verticale, en/of neerwaartse nystagmus, hypermetrische saccades), verhoogde diepe peesreflexen en progressieve cognitieve aftakeling. Mogelijke bijkomende variabele kenmerken zijn onder meer atrofie en fasciculaties van proximale beenspieren, pes cavus, inspiratoire stridor, epilepsie, retinadegeneratie en cataracten. Beeldvorming van de hersenen toont aanzienlijke cerebellaire atrofie, en elektromyografie toont aanwijzingen van betrokkenheid van lagere motorneuronen."},"pt":{"name":"Ataxia cerebelosa autossómica recessiva de início no adulto"},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa o początku w wieku dorosłym","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-10","SCAR10"]},"cs":{"name":"Autozomálně recesivní cerebelární ataxie s nástupem v dospělém věku","synonyms":["SCAR10","Autozomálně recesivní spinocerebelární ataxie, typ 10"]},"uk":{"name":"Аутосомно-рецесивна мозочкова атаксія, що починається в дорослому віці","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 10","SCAR10"],"definition":"A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement."},"zh":{"name":"成人起病常染色体隐性遗传小脑共济失调","synonyms":["常染色体隐性遗传脊髓小脑共济失调10型"],"definition":"成人起病的常染色体隐性遗传小脑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，其特征是成年后出现缓慢进行性脊髓小脑共济失调，表现为步态和四肢共济失调、构音障碍、眼球运动异常（例如水平、垂直和/或下击型眼球震颤、Hypermetric扫视），腱反射亢进和进行性认知能力下降。其他特征包括近端腿部骨骼肌萎缩和震颤、高弓足、吸气性喘鸣、癫痫、视网膜变性和白内障。脑成像显示明显的小脑萎缩，肌电图显示下运动神经元受累。"},"tr":{"name":"Erişkin-başlangıçlı otozomal resesif serebellar ataksi","synonyms":["SCAR10","Otozomal çekinik spinoserebellar ataksi tip 10"]}},"xrefs":[{"source":"OMIM","code":"613728","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150998","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":"ANO10","name":"anoctamin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21092923[PMID]","hgnc":"25519","ensembl":"ENSG00000160746","omim":"613726","loci":["3p22.1-p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25182700[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"25182700[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-21","source":"25182700[PMID]_21092923[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010545","label":"Downbeat nystagmus","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:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","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:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000503","label":"Tortuosity of conjunctival vessels","frequency":"Occasional (29-5%)","criteria":null}]}}