{"orpha":247234,"name":"Sporadic adult-onset ataxia of unknown etiology","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic late-onset cerebellar ataxia","SAOA"],"definition":"A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247234/","orphanet_url":"https://www.orpha.net/en/disease/detail/247234","names":{"fr":{"name":"Ataxie sporadique tardive d'étiologie indéterminée","synonyms":["Ataxie sporadique de l'adulte d'étiologie indéterminée","ILOCA","SAOA"],"definition":"L'ataxie sporadique tardive d'étiologie indéterminée décrit un groupe d'ataxies dégénératives non héréditaires caractérisées par un syndrome cérébelleux progressif (avec ataxie du regard et de la démarche, dysmétrie des membres supérieurs et tremblement de l'intention, voix ataxique et anomalies oculomotrices). Elle se présente à l'âge adulte (vers l'âge de 50 ans). L'étiologie est inconnue. Des symptômes extra-cérébelleux (moindre ressenti des vibrations, diminution ou absence des réflexes des chevilles), une polyneuropathie et une dysfonction autonomique légère peuvent aussi être présents. Une légère atteinte cognitive a aussi été rapportée dans de rares cas."},"de":{"name":"Sporadische Ataxie unbekannter Ätiologie im Erwachsenenalter","synonyms":["Idiopathische spät-einsetzende zerebelläre Ataxie","SAOA"],"definition":"Eine seltene nicht-erbliche degenerative Ataxie, die durch ein langsam progredientes Kleinhirnsyndrom (mit Ataxie des Standes und des Ganges, Dysmetrie der oberen Gliedmaßen und Intentionstremor, ataktischer Sprache und okulomotorischen Anomalien) gekennzeichnet ist, das im Erwachsenenalter (um das 50. Lebensjahr herum) auftritt und keine bekannte Ursache hat. Extrazerebelläre Symptome (z. B. verminderter Vibrationssinn und fehlende oder verminderte Knöchelreflexe), Polyneuropathie und leichte autonome Dysfunktion können ebenfalls vorhanden sein. Selten wurde auch eine leichte kognitive Beeinträchtigung berichtet."},"es":{"name":"Ataxia esporádica de inicio en el adulto de etiología desconocida","synonyms":["Ataxia cerebelosa idiopática de inicio tardío","SAOA"],"definition":"Es una forma poco frecuente de ataxia degenerativa no hereditaria caracterizada por un síndrome cerebeloso de progresión lenta (con ataxia postural y de marcha, dismetría de miembros superiores y temblor de intención, habla atáxica y anomalías oculomotoras), presentándose en la edad adulta (alrededor de los 50 años de edad). También se ha descrito síntomas extracerebelosos (como disminución de la sensibilidad vibratoria y ausencia o disminución de reflejos aquíleos), polineuropatía y disfunción autonómica leve. En casos excepcionales, se ha descrito un leve deterioro cognitivo."},"it":{"name":"Atassia sporadica a eziologia non nota e a esordio nell'età adulta","synonyms":["Atassia cerebellare idiopatica a esordio tardivo","SAOA"],"definition":"L'atassia sporadica ad eziologia non nota, ad esordio nell'età adulta, comprende un gruppo di atassie degenerative non ereditarie, caratterizzate da una sindrome cerebellare a progressione lenta (con atassia della postura e dell'andatura, dismetria degli arti superiori, tremore intenzionale, atassia del linguaggio e anomalie oculo-motorie), ad esordio nell'età adulta (attorno ai 50 anni); l'eziologia non è nota. Possono essere presenti anche segni extracerebellari (diminuzione del senso della vibrazione e riduzione/assenza dei riflessi della caviglia), polineuropatia e disfunzione autonomica lieve. Raramente è presente un lieve deficit cognitivo."},"nl":{"name":"Sporadische ataxie met aanvang op volwassen leeftijd met onbekende etiologie","synonyms":["Idiopathische cerebellaire ataxie met late aanvang","SAOA"],"definition":"Een zeldzame niet-hereditaire degeneratieve ataxie, gekarakteriseerd door een traag progressief cerebellair syndroom (met ataxie van houding en gang, dysmetrie en intentietremor van bovenste ledematen, ataxische spraak, en oculomotorische afwijkingen) dat zich presenteert in de volwassenheid (rond de leeftijd van 50 jaar) en niet te wijten is aan een gekende oorzaak. Extracerebellaire symptomen (e.g. verminderde vibratiezin en afwezige of verminderde enkelreflexen), polyneuropathie en milde autonome disfunctie kunnen ook aanwezig zijn. In zeldzame gevallen werd ook milde cognitieve functiestoornis gerapporteerd."},"pt":{"name":"Ataxia esporádica com início no adulto sem etiologia conhecida"},"pl":{"name":"Sporadyczna ataksja dorosłych o nieznanej etiologii","synonyms":["Idiopatyczna ataksja móżdżkowa o późnym początku","SAOA"]},"cs":{"name":"Sporadická ataxie neznámého původu s nástupem v dospělosti","synonyms":["SAQA","Idiopatická cerebelární ataxie s pozdním začátkem"]},"uk":{"name":"Спорадична атаксія у дорослих невідомої етіології","synonyms":["Ідіопатична мозочкова атаксія з пізнім початком","SAOA"],"definition":"A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported."},"zh":{"name":"病因不明散发性成人共济失调","synonyms":["孤立性晚发性小脑共济失调"],"definition":"不明原因的的散发性成人期发病共济失调是一组非遗传性退行性共济失调，其特征为缓慢进行的小脑综合征（伴有站立和步态共济失调、上肢运动失调和意向性震颤、共济失调性语言和动眼神经异常），在成人期（50岁左右）出现，且病因不明。也可能出现小脑外症状（如振动感下降、踝关节反射缺失或减少）、多发性神经病和轻度自主神经功能障碍。较少报道出现轻度认知障碍。"},"tr":{"name":"Sporadik yetişkin başlangıçlı, etiyolojisi bilinmeyen ataksi","synonyms":["SAOA","İdiyopatik geç-başlangıçlı serebellar ataksi"]}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518339","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":247239,"name":"Non-hereditary degenerative ataxia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.6,"area":"Europe","status":"Not yet validated","source":"20083040[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.9,"area":"Italy","status":"Validated","source":"7793232[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.4,"area":"United Kingdom","status":"Validated","source":"15258214[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-05","source":"26517211[PMID]_21827893[PMID]_2341843[PMID]","terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007670","label":"Abnormal vestibulo-ocular reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008278","label":"Cerebellar cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null}]}}