{"orpha":494541,"name":"Childhood-onset benign chorea with striatal involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494541/","orphanet_url":"https://www.orpha.net/en/disease/detail/494541","names":{"fr":{"name":"Syndrome de chorée bénigne avec atteinte striatale","definition":"Trouble génétique du mouvement hyperkinétique rare, caractérisé principalement par une chorée de sévérité variable, associée à des anomalies striatales bilatérales visibles à l'IRM cérébrale. La maladie est peu progressive et les performances cognitives sont préservées dans la majorité des cas, bien qu'un léger retard mental ait également été rapporté."},"de":{"name":"Im Kindesalter beginnende benigne Chorea mit striataler Beteiligung","definition":"Eine genetisch bedingte hyperkinetische Bewegungsstörung, die vor allem durch Chorea unterschiedlichen Schweregrades gekennzeichnet ist und mit bilateralen striatalen Anomalien im MRT des Gehirns einhergeht. Die Krankheit ist kaum progredient, und die kognitiven Leistungen bleiben in der Mehrzahl der Fälle erhalten, obwohl auch von leichten kognitiven Verzögerungen berichtet wurde."},"es":{"name":"Corea benigna de inicio en la infancia con afectación estriatal","definition":"Es un trastorno del movimiento hipercinético de origen genético poco frecuente caracterizado predominantemente por corea de intensidad variable, asociada a anomalías estriatales bilaterales en la resonancia magnética cerebral. La enfermedad es poco progresiva y el rendimiento cognitivo está conservado en la mayoría de los casos, aunque también se ha descrito un leve retraso cognitivo."},"it":{"name":"Corea benigna ad esordio infantile con interessamento dello striato","definition":"Si tratta di una malattia genetica rara del movimento associata ad ipercinesia, caratterizzata prevalentemente da corea di gravità variabile, associata ad anomalie bilaterali del corpo striato evidenti alla RMN. La malattia è limitatamente progressiva e, nella maggior parte dei pazienti, la funzione cognitiva è preservata, sebbene siano stati descritti casi di lieve ritardo cognitivo."},"nl":{"name":"Goedaardige chorea - striatale betrokkenheid-syndroom met aanvang in de kindertijd","definition":"Een zeldzame, genetische hyperkinetische bewegingsstoornis, voornamelijk gekarakteriseerd door chorea met variabele gradaties van ernst, geassocieerd met bilaterale striatale afwijkingen bij cerebrale MRI. De ziekte is nauwelijks progressief, en cognitieve performantie blijft bewaard in de meerderheid van de gevallen, hoewel milde cognitieve achterstand ook reeds werd gerapporteerd."},"pt":{"name":"Coréia benigna com início na infância com envolvimento do estriado"},"pl":{"name":"Łagodna pląsawica z zajęciem prążkowia o początku w dzieciństwie"},"cs":{"name":"Syndrom zahrnující dětskou benigní choreu a postižená striata"},"uk":{"name":"Підліткова доброякісна хорея із залученням смугастого тіла","definition":"A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported."},"zh":{"name":"儿童期良性舞蹈症伴纹状体受累","definition":"这是一种罕见的遗传性运动机能亢进性运动障碍，主要表现为严重程度不一的舞蹈症，并伴有双侧大脑MRI异常。该病几乎无进展，大多数病例的认知能力得以保留，但也有轻度认知延迟。"},"tr":{"name":"Çocukluk çağı başlangıçlı striatal tutulumu olan selim kore"}},"xrefs":[{"source":"OMIM","code":"616922","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.5","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0044332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]},{"orpha":306719,"name":"Neurodegenerative disease with chorea","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PDE10A","name":"phosphodiesterase 10A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27058446[PMID]_27058447[PMID]","hgnc":"8772","ensembl":"ENSG00000112541","omim":"610652","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27058447[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27058447[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-09","source":"27058447[PMID]","terms":[{"hpo":"HP:0002072","label":"Chorea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031206","label":"Striatal T2 hyperintensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Excluded (0%)","criteria":null}]}}