{"orpha":454887,"name":"Corticobasal syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454887/","orphanet_url":"https://www.orpha.net/en/disease/detail/454887","names":{"fr":{"name":"Syndrome corticobasal","definition":"Maladie neurologique rare caractérisée par divers dysfonctionnements du système moteur et troubles cognitifs, tels que rigidité asymétrique, bradykinésie, apraxie des membres et trouble visuo-spatial."},"de":{"name":"Kortikobasales Syndrom","definition":"Das kortikobasale Syndrom (CBS) ist eine seltene neurologische Erkrankung, die durch vielfältige Störungen des motorischen Systems und kognitive Defekte wie asymmetrische Rigidität, Bradykinesie, Gliedmaßenapraxie und visuospatiale Störungen gekennzeichnet ist."},"es":{"name":"Síndrome corticobasal","definition":"Es una enfermedad neurológica poco frecuente caracterizada por diversos trastornos del sistema motor y defectos cognitivos tales como rigidez asimétrica, bradicinesia, apraxia de las extremidades y disfunción visoespacial."},"it":{"name":"Sindrome corticobasale","definition":"La sindrome corticobasale (CBS) è una malattia neurologica rara, caratterizzata da disfunzioni del sistema motorio e deficit cognitivi (rigidità asimmetrica, bradicinesia, aprassia degli arti e disfunzione visuo-spaziale)."},"nl":{"name":"Corticobasaal syndroom","definition":"Een zeldzame neurologische ziekte, gekarakteriseerd door veelzijdige disfuncties van motorisch systeem en cognitieve defecten zoals asymmetrische rigiditeit, bradykinesie, apraxie van ledematen, en visuospatiële disfunctie."},"pt":{"name":"Síndrome corticobasal"},"pl":{"name":"Zespół korowo-podstawny"},"cs":{"name":"Kortikobazální syndrom"},"uk":{"name":"Кортикобазальний синдром","definition":"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction."},"zh":{"name":"皮质基底动脉综合征","definition":"一种罕见的神经系统疾病，其特征是多方面的运动系统功能障碍和认知缺陷，例如不对称刚度强直，运动迟缓，肢体失用和视觉空间功能障碍。"},"tr":{"name":"Kortikobazal sendrom"}},"xrefs":[{"source":"ICD-10","code":"G31.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018696","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000088282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393570","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":278,"name":"OBSOLETE: Corticobasal degeneration","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98535,"name":"Frontotemporal degeneration with dementia","classifications":[181]},{"orpha":306708,"name":"Frontotemporal neurodegeneration with movement disorder","classifications":[156,181]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-31","source":"30090966[PMID]_23359374[PMID]_29269636[PMID]_21853287[PMID]","terms":[{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000743","label":"Frontal release signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030217","label":"Limb apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007301","label":"Oromotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null}]}}