{"orpha":319189,"name":"Familial cortical myoclonus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319189/","orphanet_url":"https://www.orpha.net/en/disease/detail/319189","names":{"fr":{"name":"Myoclonie corticale familiale","definition":"La myoclonie corticale familiale est un trouble génétique rare du mouvement caractérisé par une myoclonie corticale multifocale lentement progressive apparaissant chez l'adulte, à transmission autosomique dominante. Les patients présentent des mouvements involontaires somato-sensoriels brefs et saccadés au niveau du visage, des bras et des jambes, associés dans la plupart des cas à de multiples chutes soudaines et soutenues sans perte de conscience. Il n'y a pas de convulsions ou d'autres troubles neurologiques mise à part une une légère ataxie cérébelleuse apparaissant tardivement au cours de la maladie."},"de":{"name":"Kortikaler Myoklonus, familiärer","definition":"Der familiäre kortikale Myoklonus ist eine seltene, genetisch bedingte Bewegungsstörung, die durch einen langsam progredienten, multifokalen kortikalen Myoklonus gekennzeichnet ist. Die Patienten zeigen somatosensorisch evozierte, kurze, ruckartige, unwillkürliche Bewegungen im Gesicht, in den Armen und Beinen, die in den meisten Fällen mit anhaltenden, mehrfachen, plötzlichen Stürzen ohne Bewusstseinsverlust einhergehen. Krampfanfälle oder andere neurologische Defizite, abgesehen von einer leichten Kleinhirnataxie im späten Krankheitsverlauf, treten nicht auf."},"es":{"name":"Mioclonía cortical familiar","definition":"El mioclono cortical familiar es un trastorno genético del movimiento poco frecuente caracterizado por un mioclonus cortical autosómico dominante, multifocal y lentamente progresivo de inicio en el adulto. Los afectados presentan breves movimientos espasmódicos involuntarios somatosensorialmente evocados en la cara, brazos y piernas, asociados en la mayoría de los casos con caídas sostenidas, múltiples y repentinas sin pérdida de conciencia. Las convulsiones u otros déficits neurológicos están ausentes, al margen de la leve ataxia cerebelosa al final del curso de la enfermedad."},"it":{"name":"Mioclonia corticale familiare","definition":"La mioclonia corticale familiare è un difetto genetico raro del movimento, caratterizzato da mioclonia corticale multifocale autosomica dominate, ad esordio dell'età adulta e a progressione lenta. I pazienti presentano movimenti involontari brevi, convulsi, evocati-sematosensoriali sul volto, nelle braccia e nelle gambe, associati, nella maggior parte dei casi, a cadute improvvise multiple e prolungate nel tempo, senza perdita di coscienza. A parte la lieve atassia cerebellare che esordisce tardivamente durante la malattia, non si osservano crisi epilettiche o altri deficit neurologici."},"nl":{"name":"Familiale corticale myoclonus","definition":"Familiale corticale myoclonus is een zeldzame, genetische bewegingsstoornis die gekarakteriseerd wordt door autosomaal dominante, in de volwassenheid aanvangende, traag progressieve, multifocale, corticale myoclonus. Patiënten vertonen somatosensorisch uitgelokte, korte, schokkerige, onvrijwillige bewegingen in het gelaat, de armen en de benen, in de meeste gevallen geassocieerd met aanhoudende, meervoudige, plotse valpartijen zonder bewustzijnsverlies. Insulten of andere neurologische deficiënties zijn afwezig, met uitzondering van milde cerebellaire ataxie die laat in het verloop van de ziekte optreedt."},"pt":{"name":"Mioclonia cortical, forma familiar"},"pl":{"name":"Rodzinny mioklonus korowy"},"cs":{"name":"Familiární kortikální myoklonus"},"uk":{"name":"Сімейний кортикальний міоклонус","definition":"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent."},"zh":{"name":"家族性皮质肌阵挛","definition":"家族性皮质肌阵挛是一种罕见的遗传性运动障碍，其特点是常染色体显性遗传、成人起病、缓慢进展、多灶性皮质肌阵挛。患者面部、手臂和腿部出现体感诱发、短暂、急快、不自主的运动，多数情况下伴有持续、多发的突然摔倒而无意识丧失。除了在病程后期出现轻度小脑共济失调外，一般不会出现癫痫发作或其他神经功能缺损。"},"tr":{"name":"Ailesel kortikal miyoklonus"}},"xrefs":[{"source":"OMIM","code":"614937","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013981","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3539916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306750,"name":"Primary myoclonus","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NOL3","name":"nucleolar protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22926851[PMID]","hgnc":"7869","ensembl":"ENSG00000140939","omim":"605235","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"2292685[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2292685[PMID]"}],"phenotypes":null}