{"orpha":256,"name":"Early-onset generalized limb-onset dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dystonia musculorum deformans","EOTD","Early-onset generalized torsion dystonia","Early-onset isolated dystonia","Early-onset primary dystonia","Early-onset torsion dystonia","Idiopathic torsion dystonia","Oppenheim dystonia"],"definition":"A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-256/","orphanet_url":"https://www.orpha.net/en/disease/detail/256","names":{"fr":{"name":"Dystonie généralisée à début précoce par les membres","synonyms":["Dystonie d'Oppenheim","Dystonie de torsion à début précoce","Dystonie généralisée primaire à début précoce","Dystonie idiopathique de torsion","Dystonie isolée à début précoce","Dystonie musculaire déformante","Dystonie primaire à début précoce","EOTD"],"definition":"Anomalie du mouvement rare caractérisée par des contractions musculaires ou des postures involontaires, répétitives et persistantes, affectant généralement un seul membre et s'étendant progressivement, chez la plupart des individus, à d'autres membres et au tronc, épargnant typiquement les régions crânienne et cervicale."},"de":{"name":"Früh beginnende generalisierte Dystonie der Extremitäten","synonyms":["DYT1","Dystonia musculorum deformans","Dystonie, idiopathische","EOTD","Früh beginnende isolierte Dystonie","Früh-einsetzende primäre Dystonie","Idiopathische Torsionsdystonie","Oppenheim-Dystonie","Torsionsdystonie, früh beginnende"],"definition":"Eine seltene Bewegungsstörung, die durch unwillkürliche, sich wiederholende, anhaltende Muskelkontraktionen oder -haltungen gekennzeichnet ist, die typischerweise in einer einzelnen Gliedmaße beginnt und bei den meisten Betroffenen zu einer fortschreitenden Beteiligung anderer Gliedmaßen und des Rumpfes führt, wobei die Schädel- und Halsregion in der Regel verschont bleibt."},"es":{"name":"Distonía generalizada de las extremidades de inicio precoz","synonyms":["Distonía aislada de inicio precoz","Distonía de Oppenheim","Distonía de torsión de inicio precoz","Distonía de torsión generalizada de inicio precoz","Distonía de torsión idiopática","Distonía muscular deformante","Distonía primaria de inicio precoz"],"definition":"Es un trastorno poco frecuente del movimiento caracterizado por posturas o contracciones musculares involuntarias, repetitivas y sostenidas, que comienza típicamente en una sola extremidad y en la mayoría de los individuos afectos se extiende progresivamente hasta afectar al resto de las extremidades y al tronco respetando, por lo general, la región craneal y cervical."},"it":{"name":"Distonia generalizzata precoce ad esordio negli arti","synonyms":["DYT1","Distonia deformante dei muscoli","Distonia di Oppenheim","Distonia di torsione idiopatica","Distonia generalizzata di torsione a esordio precoce","Distonia idiopatica","Distonia primaria a esordio precoce","Distornia di torsione a esordio precoce","EOTD"],"definition":"È un difetto raro del movimento caratterizzato da contrazioni muscolari o posture involontarie, ripetitive e prolungate che di solito esordiscono in un solo arto e, nella maggior parte dei pazienti, sono seguite da un interessamento progressivo degli altri arti e del tronco, mentre l'area cervicale e il cranio in genere sono risparmiati."},"nl":{"name":"Vroeg beginnende gegeneraliseerde dystonie met aanvang in de ledematen","synonyms":["Dystonia musculorum deformans","Dystonie van Oppenheim","EOTD","Gegeneraliseerde torsiedystonie met vroege aanvang","Geïsoleerde dystonie met vroege aanvang","Idiopathische torsiedystonie","Primaire dystonie met vroege aanvang","Vroeg beginnende torsiedystonie"],"definition":"Een zeldzame bewegingsstoornis gekarakteriseerd door onvrijwillige, repetitieve, aanhoudende spiercontracties of lichaamshoudingen die doorgaans aanvangen in een enkel ledemaat en, bij de meeste individuen, progressief andere ledematen en de romp aantasten, terwijl de craniale en cervicale regio's doorgaans gespaard blijven."},"pt":{"name":"Distonia generalizada dos membros de início precoce","synonyms":["Distonia de torção idiopática","Distonia idiopática DYT1","Distonia muscular deformante","Distonia predominantemente generalizada","Distonia primária","Distonia de Oppenheim"]},"pl":{"name":"Uogólniona dystonia o wczesnym początku rozpoczynająca się od kończyn","synonyms":["Dystonia idiopatyczna","Dystonia mięśniowa deformująca","Dystonia Oppenheim","DYT1","EOTD","Idiopatyczna dystonia torsyjna","Pierwotna dystonia o wczesnym początku","Uogólniona dystonia torsyjna o wczesnym początku","Wczesna dystonia torsyjna"]},"cs":{"name":"DYT1","synonyms":["Dystonia musculorum deformans","EOTD","Idiopatická dystonie","Idiopatická torzní dystonie","Oppenheimova dystonie","Ziehenova-Oppenheimova nemoc","Časně nasedající generalizovaná dystonie postihující končetiny","Časně nasedající generalizovaná torzní dystonie","Časně nasedající primární dystonie","Časně nasedající torzní dystonie","Ziehen-Oppenheimova nemoc"]},"uk":{"name":"Ранній початок генералізованої дистонії кінцівок","synonyms":["Деформаційна мязова дистонія","Ранній початок генералізованої торсійної дистонії","Ранній початок ізольованої дистонії","Первинна дистонія з раннім початком","Ранній початок торсійної дистонії","EOTD","Ідіопатична торсійна дистонія","Дистонія Оппенгейма"],"definition":"A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region."},"zh":{"name":"早发性全身性肢体肌张力障碍","synonyms":["早发性全身性扭转肌张力障碍"]},"tr":{"name":"Erken başlangıçlı jeneralize ekstremite başlangıçlı distoni","synonyms":["EOTD","Oppenheim distonisi","İdiyopatik torsiyon distonisi","Erken başlangıçlı primer distoni","Erken başlangıçlı torsiyon distonisi","Dystonia musculorum deformans","Erken başlangıçlı izole distoni","Erken başlangıçlı jeneralize torsiyon distonisi"]}},"xrefs":[{"source":"OMIM","code":"128100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602554","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619687","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A02.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"253658963"},{"source":"MONDO","code":"0007492","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888090","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2027","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076668","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":376724,"name":"Generalized isolated dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EIF2AK2","name":"eukaryotic translation initiation factor 2 alpha kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33236446[PMID]","hgnc":"9437","ensembl":"ENSG00000055332","omim":"176871","loci":["2p22.2"]},{"symbol":"SHQ1","name":"SHQ1, H/ACA ribonucleoprotein assembly factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34542157[PMID]","hgnc":"25543","ensembl":"ENSG00000144736","omim":"613663","loci":["3p13"]},{"symbol":"TOR1A","name":"torsin family 1 member A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301665[PMID]","hgnc":"3098","ensembl":"ENSG00000136827","omim":"605204","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Specific population","status":"Validated","source":"7719342[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United States","status":"Validated","source":"3264051[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"17129379[PMID]_23596437[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"United States","status":"Validated","source":"3264051[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.3,"area":"France","status":"Validated","source":"17290457[PMID]"}],"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:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null}]}}