{"orpha":494526,"name":"Infantile-onset generalized dyskinesia with orofacial involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile-onset orofacial-trunk-limbs dyskinesia"],"definition":"A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494526/","orphanet_url":"https://www.orpha.net/en/disease/detail/494526","names":{"fr":{"name":"Dyskinésie généralisée à début infantile avec atteinte orofaciale","synonyms":["Dyskinésie des membres-tronc-orofacial à début infantile"],"definition":"Trouble du mouvement hyperkinétique génétique rare caractérisé par un retard du développement moteur et l'apparition infantile d'une hypotonie axiale et d'un trouble du mouvement hyperkinétique généralisé, avec principalement une dyskinésie des membres et du tronc, et une atteinte faciale comprenant une dyskinésie oro-linguale, une sécrétion excessive de salive et une dysarthrie. Les mouvements hyperkinétiques sont variables, et peuvent inclure des mouvements saccadées, une chorée intermittente et un hémiballisme. L'IRM est normale et les capacités cognitives sont généralement préservées."},"de":{"name":"Infantile generalisierte Dyskinesie mit orofazialer Beteiligung","synonyms":["Orofaziale-Rumpf-Glieder-Dyskinesie mit Beginn im Kindesalter"],"definition":"Eine seltene hyperkinetische Bewegungsstörung, die durch eine verzögerte motorische Entwicklung und einen infantilen Beginn mit axialer Hypotonie und einer generalisierten hyperkinetischen Bewegungsstörung gekennzeichnet ist, hauptsächlich mit Dyskinesien der Gliedmaßen und des Rumpfes sowie einer Gesichtsbeteiligung einschließlich orolingualer Dyskinesie, Sabbern und Dysarthrie. Zu den variablen hyperkinetischen Bewegungen können eine ruckartige Qualität, intermittierende Chorea und Ballismus gehören. Die Bildgebung des Gehirns ist normal und die kognitiven Leistungen sind in der Regel erhalten."},"es":{"name":"Discinesia generalizada con afectación orofacial de inicio en la lactancia","synonyms":["Discinesia de estremidades-tronco-orofacial de inicio en la lactancia"],"definition":"Es un trastorno del movimiento hipercinético poco frecuente caracterizado por retraso del desarrollo motor e hipotonía axial de inicio en la lactancia, así como por un trastorno generalizado del movimiento hipercinético, principalmente con discinesia de las extremidades y el tronco, y afectación facial que incluye discinesia orolingual, babeo y disartria. Los movimientos hipercinéticos son variables y pueden ser espasmódicos, coreicos intermitentes y balismos. Las imágenes cerebrales son normales y, por lo general, el rendimiento cognitivo está conservado."},"it":{"name":"Discinesia generalizzata ad esordio neonatale con interessamento orofacciale","definition":"Si tratta di una malattia rara del movimento associata ad ipercinesia, caratterizzata da ritardo dello sviluppo motorio, ipotonia assiale ad esordio neonatale, disturbo generalizzato del movimento con ipercinesia, di solito con discinesia degli arti e del tronco e interessamento facciale (discinesia oro-linguale, ipersalivazione e disartria). I movimenti ipercinetici possono comprendere i sussulti, la corea intermittente e il ballismo. Le neuroimmagini sono normali e la funzione cognitiva di solito è preservata."},"nl":{"name":"Gegeneraliseerde dyskinesie met orofaciale betrokkenheid met aanvang in de zuigelingentijd","synonyms":["Orofaciale-romp-ledematen-dyskinesie met aanvang in de zuigelingentijd"],"definition":"Een zeldzame, hyperkinetische bewegingsstoornis, gekarakteriseerd door motorische ontwikkelingsachterstand en infantiele aanvang van axiale hypotonie en een gegeneraliseerde hyperkinetische bewegingsstoornis, voornamelijk met dyskinesie van ledematen en romp, en faciale betrokkenheid met onder meer orolinguale dyskinesie, kwijlen, en dysartrie. Variabele hyperkinetische bewegingen zijn onder meer schokken, intermitterende chorea en ballisme. Beeldvorming van hersenen is normaal en cognitief vermogen blijft doorgaans bewaard."},"pt":{"name":"Discinesia generalizada de início na infância com envolvimento orofacial"},"pl":{"name":"Uogólniona dyskinezja o wczesnym początku w niemowlęctwie z zajęciem ust i twarzy","synonyms":["Dyskinezja niemowlęca ust i twarzy, tułowia i konczyn"]},"cs":{"name":"Generalizovaná dyskinezie s orofaciálním postižením s nástupem v kojeneckém věku","synonyms":["Dyskineze v orofaciální oblasti, oblasti trupu a koncetin s nástupem v detství","Dyskineze v orofaciální oblasti, oblasti trupu a končetin s nástupem v dětství"]},"uk":{"name":"Інфантильна генералізована дискінезія з орофаціальним ураженням","synonyms":["Дискінезія лицьового нерва, тулуба та кінцівок, що починається в дитячому віці"],"definition":"A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved."},"zh":{"name":"婴儿期发作的广泛性运动障碍伴口面部受累","synonyms":["婴儿期发作的口面-躯干-肢体运动障碍"],"definition":"一种罕见的运动机能亢进性运动障碍，其特点是运动发育迟缓，婴儿期开始出现轴性肌张力低下和全身性运动机能亢进性运动障碍，主要表现为四肢和躯干运动障碍，面部受累包括口舌运动障碍、流涎和构音障碍。多种运动机能亢进的动作可能包括忽动忽停运动、间歇性舞蹈症和颤搐。大脑影像学检查正常，认知能力通常得以保留。"},"tr":{"name":"Orofasiyal tutulumla seyreden infantil başlangıçlı jeneralize diskinezi","synonyms":["İnfantil başlangıçlı orofasiyal gövde ekstremite diskinezi"]}},"xrefs":[{"source":"OMIM","code":"616921","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0044637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567464","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","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]","hgnc":"8772","ensembl":"ENSG00000112541","omim":"610652","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"27058446[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27058446[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-22","source":"27058446[PMID]","terms":[{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100248","label":"Hemiballismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Excluded (0%)","criteria":null}]}}