{"orpha":238722,"name":"Familial congenital mirror movements","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial congenital controlateral synkinesia","Hereditary congenital controlateral synkinesia","Hereditary congenital mirror movements","Isolated congenital controlateral synkinesia","Isolated congenital mirror movements"],"definition":"A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238722/","orphanet_url":"https://www.orpha.net/en/disease/detail/238722","names":{"fr":{"name":"Mouvements en miroir congénitaux familiaux","synonyms":["Mouvements en miroir congénitaux héréditaires","Mouvements en miroir congénitaux isolés","Syncinésie controlatérale congénitale familiale","Syncinésie controlatérale congénitale héréditaire","Syncinésie controlatérale congénitale isolée"],"definition":"Anomalie du mouvement rare de cause génétique, caractérisée par des mouvements involontaires des membres d'un côté du corps qui reproduisent les mouvements volontaires effectués du côté opposé. De survenue familiale et affectant plusieurs membres au premier degré, l'anomalie persiste au-delà de la première décennie de vie et n'est associée à aucune comorbidité."},"de":{"name":"Spiegelbewegungen, familiäre kongenitale","synonyms":["Kontralaterale Synkinesie, isolierte kongenitale","Spiegelbewegungen, isolierte kongenitale","Synkinesie, kontralaterale, familiäre"],"definition":"Eine seltene, genetisch bedingte Bewegungsstörung, die durch unwillkürliche Bewegungen auf einer Körperseite gekennzeichnet ist, die absichtliche Bewegungen auf der gegenüberliegenden Körperseite widerspiegeln, und die bei mehreren Mitgliedern ersten Grades einer Familie auftritt, über das erste Lebensjahrzehnt hinaus andauert und keine Begleiterkrankungen aufweist."},"es":{"name":"Movimientos en espejo congénitos familiares","synonyms":["Movimientos en espejo congénitos aislados","Movimientos en espejo congénitos hereditarios","Sincinesia contralateral congénita aislada","Sincinesia contralateral congénita familiar","Sincinesia contralateral congénita hereditaria"],"definition":"Es un trastorno genético y poco frecuente del movimiento caracterizado por movimientos involuntarios de un lado del cuerpo que reflejan movimientos intencionales del lado opuesto presentes en varios familiares de primer grado, que persisten más allá de la primera década de la vida, y sin co-morbilidades asociadas."},"it":{"name":"Movimenti a specchio congeniti familiari","synonyms":["Movimenti a specchio congeniti ereditari","Movimenti a specchio congeniti isolati","Sincinesia controlaterale congenita ereditaria","Sincinesia controlaterale congenita familiare","Sincinesia controlaterale congenita isolata"],"definition":"È un difetto genetico raro del movimento, caratterizzato da movimenti involontari in un lato del corpo, che rispecchiano i movimenti volontari del lato controlaterale. La malattia è presente in più consanguinei di primo grado, persiste oltre la prima decade di vita e non presenta comorbilità."},"nl":{"name":"Familiale congenitale spiegelbewegingen","synonyms":["Erfelijke congenitale controlaterale synkinesie","Erfelijke congenitale spiegelbewegingen","Familiale aangeboren controlaterale synkinesie","Geïsoleerde aangeboren controlaterale synkinesie","Geïsoleerde congenitale spiegelbewegingen"],"definition":"Familiale congenitale spiegelbewegingen is een zeldzame, genetische bewegingsstoornis en wordt gekarakteriseerd door onvrijwillige bewegingen aan één zijde van het lichaam die bewuste bewegingen aan de andere zijde van het lichaam spiegelen, die aanwezig zijn bij verschillende eerstegraadsverwanten van een familie, die aanhouden tot na het eerste levensdecennium, en die geen geassocieerde comorbiditeiten vertonen."},"pt":{"name":"Movimentos em espelho congénitos familiares"},"pl":{"name":"Rodzinne wrodzone ruchy lustrzane","synonyms":["Dziedziczna wrodzona synkinezja kontrlateralna","Dziedziczne wrodzone ruchy lustrzane","Izolowana wrodzona synkinezja kontrlateralna","Izolowane wrodzone ruchy lustrzane","Rodzinna wrodzona synkinezja kontrlateralna"]},"cs":{"name":"Familiární vrozené zrcadlové pohyby","synonyms":["Familiární vrozená kontralaterální synkineze","Hereditární vrozená kontralaterální synkineze","Hereditární vrozené zrcadlové pohyby","Izolovaná vrozená kontralaterální synkineze","Izolované vrozené zrcadlové pohyby"]},"uk":{"name":"Сімейні вроджені дзеркальні рухи","synonyms":["Сімейна вроджена контрольна латеральна синкинезія","Спадкова вроджена контролатеральна синкинезія","Спадкові вроджені дзеркальні рухи","Ізольована вроджена контролатеральна синкинезія","Ізольовані вроджені дзеркальні рухи"],"definition":"A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities."},"zh":{"name":"家族性先天性镜像运动","synonyms":["遗传性先天性控制侧联带运动"],"definition":"一种罕见的遗传性运动障碍，其特征是身体一侧的不自主运动，身体另一侧镜像的有意运动，发生于一个家庭的多个一级亲属中，持续到10岁，且没有相关的合并症。"},"tr":{"name":"ailesel doğumsal ayna hareketleri","synonyms":["İzole doğumsal ayna hareketleri","Kalıtsal doğumsal ayna hareketleri","Ailesel doğumsal kontrolateral sinkinezi","İzole doğumsal kontrolateral sinkinezi","Kalıtsal doğumsal kontrolateral sinkinezi"]}},"xrefs":[{"source":"OMIM","code":"157600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614508","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616059","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618264","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1966778637"},{"source":"MONDO","code":"0016558","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191311","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183521,"name":"Rare genetic movement disorder","classifications":[156]},{"orpha":102003,"name":"Rare movement disorder","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DCC","name":"DCC netrin 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20431009[PMID]","hgnc":"2701","ensembl":"ENSG00000187323","omim":"120470","loci":["18q21.2"]},{"symbol":"DNAL4","name":"dynein axonemal light chain 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25098561[PMID]","hgnc":"2955","ensembl":"ENSG00000100246","omim":"610565","loci":["22q13.1"]},{"symbol":"NTN1","name":"netrin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28945198[PMID]","hgnc":"8029","ensembl":"ENSG00000065320","omim":"601614","loci":["17p13.1"]},{"symbol":"RAD51","name":"RAD51 recombinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22305526[PMID]","hgnc":"9817","ensembl":"ENSG00000051180","omim":"179617","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":75.0,"area":"Worldwide","status":"Validated","source":"19127048[PMID]_19720981[PMID]_21242494[PMID]_27830107[PMID]_25098561[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19127048[PMID]_19720981[PMID]_21242494[PMID]_27830107[PMID]_25098561[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-14","source":"19127048[PMID]_20431009[PMID]_28250454[PMID]_14639670[PMID]_25098561[PMID]_14639670[PMID]_21242494[PMID]_25813273[PMID]","terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001335","label":"Bimanual synkinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002492","label":"Morphological abnormality of the corticospinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025101","label":"Dysgenesis of the hippocampus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null}]}}