{"orpha":1177,"name":"Early-onset cerebellar ataxia with retained tendon reflexes","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EOCA","EOCARR","Harding ataxia"],"definition":"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1177/","orphanet_url":"https://www.orpha.net/en/disease/detail/1177","names":{"fr":{"name":"Ataxie cérébelleuse précoce avec conservation des réflexes tendineux","synonyms":["Ataxie de Harding","EOCA","EOCARR"],"definition":"L'ataxie cérébelleuse précoce avec conservation des réflexes tendineux (ACPCRT) ou ataxie de Harding est une ataxie cérébelleuse caractérisée par l'association progressive d'un syndrome cérébelleux et pyramidal avec une ataxie cérébelleuse progressive, des réflexes tendineux vifs et parfois une perte de la sensibilité profonde."},"de":{"name":"Ataxie, zerebelläre, früh beginnende, mit Erhalt der Sehnenreflexe","synonyms":["EOCA","EOCARR","Harding-Ataxie"],"definition":"Die früh beginnende Zerebelläre Ataxie mit erhaltenen Sehnenreflexen (EOCARR) oder Harding-Ataxie ist gekennzeichnet durch die Assoziation von Kleinhirn- und Pyramidensyndrom. Die progrediente zerebelläre Ataxie geht einher mit gesteigerten Sehnenreflexen und manchmal auch mit erheblich verminderter Sensibilität."},"es":{"name":"Ataxia cerebelosa de inicio precoz con preservación de reflejos tendinosos","synonyms":["Ataxia cerebelosa temprana con preservación de reflejos tendinosos","Ataxia de Harding","EOCA","EOCARR"],"definition":"La ataxia cerebelosa de aparición temprana con preservación de reflejos (EOCARR) o ataxia de Harding es una ataxia cerebelosa caracterizada por la progresiva asociación de un síndrome cerebeloso y piramidal con ataxia cerebelosa progresiva, reflejos enérgicos de los tendones y, en ocasiones, una pérdida de sensibilidad profunda."},"it":{"name":"Atassia cerebellare precoce con conservazione dei riflessi tendinei","synonyms":["Atassia di Harding","EOCA","EOCARR"],"definition":"L'atassia cerebellare a esordio precoce con conservazione dei riflessi (EOCARR) o atassia di Harding è un'atassia cerebellare caratterizzata dalla progressiva associazione tra una sindrome cerebellare e piramidale, atassia cerebellare progressiva, riflessi tendinei vivaci e, occasionalmente, perdita della sensibilità profonda."},"nl":{"name":"Vroeg optredende cerebellaire ataxie met behoud van peesreflexen","synonyms":["Ataxie van Harding","EOCA","EOCARR"],"definition":"Vroeg beginnende cerebellaire ataxie met behoud van peesreflexen (EOCARR) of Hardingataxie is een cerebellaire ataxie die wordt gekarakteriseerd door de progressieve associatie van een cerebellair en een piramidaal syndroom met progressieve cerebellaire ataxie, vlotte peesreflexen, en soms uitgesproken verlies van zintuigelijke gevoeligheid."},"pt":{"name":"Ataxia cerebelosa de início precoce com reflexos tendinosos preservados","synonyms":["Ataxia de Harding"]},"pl":{"name":"Ataksja możdżkowa o wczesnym początku z zachowanym odruchem ścięgnistym","synonyms":["Ataksja Hardinga","EOCA","EOCARR"],"definition":"Ataksja móżdżkowa o wczesnym początku z zachowanymi odruchami ścięgnistymi (EOCARR) lub ataksja Harding to ataksja móżdżkowa charakteryzująca się postępującym zespołem móżdżkowym i piramidowym z postępującą ataksją móżdżkową, nasilonymi odruchami ścięgnistymi i w niektórych przypadkach utratę czucia głębokiego."},"cs":{"name":"Časně začínající mozečková ataxie se zachovalými svalovými reflexy","synonyms":["EOCA","EOCARR","Hardingova ataxie"]},"uk":{"name":"Рання мозочкова атаксія зі збереженими сухожильними рефлексами","synonyms":["EOCA","EOCARR","Атаксія Хардінга"],"definition":"Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss."},"zh":{"name":"早发型小脑共济失调伴肌腱反射保留","synonyms":["Harding共济失调"]},"tr":{"name":"Korunmuş tendon refleksleri ile erken başlangıçlı serebellar ataksi","synonyms":["EOCA","EOCARR","Harding ataksi"]}},"xrefs":[{"source":"OMIM","code":"212895","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":"index","validated":true,"icd11_uri":"1712796818"},{"source":"MONDO","code":"0008938","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393520","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98098,"name":"Autosomal recessive degenerative and progressive cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.08,"area":"Italy","status":"Validated","source":"8330454[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Italy","status":"Validated","source":"8330454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-07","source":"7276963[PMID]_8330454[PMID]_9686785[PMID]_1884166[PMID]_2213043[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008003","label":"Jerky ocular pursuit movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0005775","label":"Multiple skeletal anomalies","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Excluded (0%)","criteria":null}]}}