{"orpha":1429,"name":"Benign hereditary chorea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BHC","Benign familial chorea"],"definition":"A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1429/","orphanet_url":"https://www.orpha.net/en/disease/detail/1429","names":{"fr":{"name":"Chorée bénigne héréditaire","synonyms":["Chorée bénigne familiale"],"definition":"Anomalie du mouvement rare de cause génétique, caractérisée par l'apparition précoce de mouvements choréiformes à progression très lente, pouvant toucher diverses parties du corps et généralement aggravés par le stress ou l'anxiété. Ces anomalies ont été rapportées chez plusieurs membres d'une même famille. Les autres manifestations inconstantes sont une hypotonie, qui entraîne souvent un retard psychomoteur (dont des troubles de la marche), une dysarthrie, des myoclonies, une dystonie, des troubles du comportement (TDAH, trouble obsessionnel compulsif), des troubles de l'apprentissage (notamment à l'écrit) et une spasticité accompagnée d'une hyperréflexie et/ou d'un réflexe cutané plantaire en flexion/extension."},"de":{"name":"Chorea, benigne hereditäre","synonyms":["BHC","Chorea, familiäre gutartige"],"definition":"Eine seltene hereditäre Bewegungsstörung, die durch früh einsetzende, sehr langsam fortschreitende choreiforme Bewegungen gekennzeichnet ist. Sie kann verschiedene Körperteile betreffen und wird typischerweise durch Stress oder Angst verschlimmert. Zu den weiteren variablen Erscheinungsformen gehören Hypotonie, die häufig zu psychomotorischen Verzögerungen (einschließlich Gangstörungen) und Dysarthrie führt, sowie Myoklonus, Dystonie, Verhaltenssymptome (ADHS, Zwangsstörungen), Lernschwierigkeiten (insbesondere beim Schreiben) und Spastizität mit Hyperreflexie und/oder Beuge- und Streckreflexen der Fußsohlen."},"es":{"name":"Corea benigna hereditaria","synonyms":["BHC","Corea benigna familiar"],"definition":"Es un trastorno del movimiento poco frecuente y de causa genética, caracterizado por movimientos coreiformes de inicio temprano muy lentamente progresivos. Pueden afectar a diversas partes del cuerpo, típicamente agravados por estrés o ansiedad, y se presentan en varios miembros de una misma familia. Manifestaciones variables adicionales incluyen hipotonía, que a menudo resulta en retraso psicomotor (incluyendo alteraciones de la marcha) y disartria, así como mioclonias, distonía, trastornos de conducta (TDAH, trastorno obsesivo compulsivo), dificultades de aprendizaje (especialmente en la escritura) y espasticidad con hiperreflexia y/o reflejos plantares extensores"},"it":{"name":"Corea ereditaria benigna","synonyms":["Corea ereditaria benigna"],"definition":"È una malattia genetica rara del movimento, caratterizzata da movimenti coreiformi ad esordio precoce e a progressione molto lenta, che possono interessare diverse zone del corpo e che di solito si aggravano con lo stress e l'ansia, osservati in più membri della stessa famiglia. Altri segni clinici variabili sono l'ipotonia, che spesso esita nel ritardo psicomotorio (comprese le anomalie dell'andatura), la disartria, il mioclono, la distonia, le anomalie comportamentali (ADHD, disturbo ossessivo-compulsivo), le difficoltà di apprendimento (in particolare nella scrittura) e la spasticità con iperreflessia e/o riflessi plantari in flessione/estensione."},"nl":{"name":"Goedaardige erfelijke chorea","synonyms":["BHC","Goedaardige familiale chorea"],"definition":"Een zeldzame, genetische bewegingsstoornis gekarakteriseerd door vroeg aanvangende, zeer traag progressieve choreatische bewegingen die variabele lichaamsdelen kunnen aantasten, doorgaans verergerd worden door stress of angst, en voorkomen bij verschillende leden van een familie. Bijkomende variabele manifestaties zijn onder meer hypotonie, die vaak leidt tot psychomotorische achterstand (inclusief gangstoornissen) en dysartrie, alsook myoclonus, dystonie, gedragssymptomen (ADHD, obsessief-compulsieve stoornis), leermoeilijkheden (vooral bij schrijven) en spasticiteit met hyperreflexie en/of plantaire flexie/extensie reflexen."},"pt":{"name":"Coreia benigna familiar"},"pl":{"name":"Dziedziczna łagodna pląsawica","synonyms":["Rodzinna łagodna pląsawica"]},"cs":{"name":"Benigní familiární chorea","synonyms":["Benigní hereditární chorea"]},"uk":{"name":"Доброякісна спадкова хорея","synonyms":["Доброякісна сімейна хорея","BHC"],"definition":"A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes."},"zh":{"name":"良性遗传性舞蹈症","synonyms":["良性家族性舞蹈症"]},"tr":{"name":"Selim kalıtsal korea","synonyms":["BHC","Selim ailesel kore"]}},"xrefs":[{"source":"OMIM","code":"118700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"215450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A01.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"829618737"},{"source":"MONDO","code":"0001595","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"1595","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393584","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1305","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":"ADCY5","name":"adenylate cyclase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26085604[PMID]","hgnc":"236","ensembl":"ENSG00000173175","omim":"600293","loci":["3q21.1"]},{"symbol":"NKX2-1","name":"NK2 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12891678[PMID]_16220345[PMID]_24555207[PMID]","hgnc":"11825","ensembl":"ENSG00000136352","omim":"600635","loci":["14q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Worldwide","status":"Validated","source":"26196025[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null}]}}