{"orpha":98808,"name":"Autosomal dominant dopa-responsive dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant Segawa syndrome","DYT5a","GTPCH1-deficient DRD","GTPCH1-deficient dopa-responsive dystonia","HPD with marked diurnal fluctuation","Hereditary progressive dystonia with marked diurnal fluctuation"],"definition":"A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98808/","orphanet_url":"https://www.orpha.net/en/disease/detail/98808","names":{"fr":{"name":"Dystonie dopa-sensible autosomique dominante","synonyms":["DYT5a","Dystonie progressive héréditaire avec fluctuations diurnes marquées","Syndrome de Segawa autosomique dominant"],"definition":"La dystonie dopa-sensible autosomique dominante (DYT5a) est un trouble neurométabolique rare caractérisé par une dystonie apparaissant au cours de l'enfance. Elle répond très bien et de manière soutenue à des doses faibles de lévodopa (L-dopa) et peut être associée à un syndrome parkinsonien à un âge plus avancé."},"de":{"name":"Dopa-responsive Dystonie, autosomal-dominante","synonyms":["DYT5a","GTPCH1-defiziente DRD","GTPCH1-defiziente dopa-responsive Dystonie","Hereditäre progressive Dystonie mit tageszeitlicher Fluktuation","Segawa-Syndrom, autosomal-dominantes"],"definition":"Die autosomal-dominante Dopa-responsive Dystonie (DYT5a) ist eine seltene neurometabolische Erkrankung. Charakteristisches Symptom ist eine im Kindesalter beginnende Dystonie, die dramatisch und dauerhaft auf niedrigdosiertes Levodopa (L-Dopa) anspricht und im höheren Alter mit einem Parkinsonismus einhergehen kann."},"es":{"name":"Distonía dopa-sensible autosómica dominante","synonyms":["DRD deficiente en GTPCH1","DYT5a","Distonía dopa-sensible deficiente en GTPCH1","Distonía hereditaria progresiva con marcada fluctuación diurna","HPD con marcada fluctuación diurna","Síndrome de Segawa autosómico dominante"],"definition":"Es un trastorno neurometabólico poco frecuente caracterizado por una distonía de aparición en la infancia que presenta una respuesta notable y mantenida a bajas dosis de levodopa (L-dopa) y que puede estar asociado a parkinsonismo a edades más avanzadas."},"it":{"name":"Distonia Dopa-sensibile autosomica dominante","synonyms":["DRD da deficit di GTPCH1","DYT5a","Distonia Dopa-sensibile da deficit di GTPCH1","Distonia progressiva ereditaria con marcata fluttuazione diurna","HPD con marcata fluttuazione diurna","Sindrome di Segawa autosomica dominante"],"definition":"La distonia Dopa-sensibile autosomica dominante (DYT5a) è una malattia rara neurometabolica caratterizzata da distonia ad esordio nell'infanzia, che risponde in modo significativo e sostanziale alle basse dosi di Levodopa (L-Dopa) e può associarsi al parkinsonismo in un'età più avanzata."},"nl":{"name":"Autosomaal dominante doparesponsieve dystonie","synonyms":["Autosomaal dominant syndroom van Segawa","DYT5a","Erfelijke progressieve dystonie met duidelijke diurnale fluctuatie","GTPCH1-deficiëntie DRD","GTPCH1-deficiëntie doparesponsieve dystonie","HPD met duidelijke diurnale fluctuatie","Hereditaire progressieve dystonie met duidelijke diurnale fluctuatie"],"definition":"Een zeldzame neurometabole aandoening, gekarakteriseerd door aanvang in de kindertijd van dystonie die een sterke en aanhoudende reactie vertoont op lage doses levodopa (L-dopa), en die op latere leeftijd kan geassocieerd zijn met parkinsonisme."},"pt":{"name":"Distonia sensível à dopa autossómica dominante"},"pl":{"name":"Autosomalna dominująca dystonia reagująca na lewodopę","synonyms":["Autosomalny dominujący zespół Segawa","DRD z deficytem GTPCH1","Dystonia reagująca na lewodopę z deficytem GTPCH1","DYT5a"]},"cs":{"name":"Autozomálně dominantní dopa-responzivní dystonie","synonyms":["DYT5a","GTPCH1-deficientní DRD","GTPCH1-deficientní dopa-responzivní dystonie","HPD s výraznou diurnální fluktuací","Hereditární progresivní dystonie s výraznou diurnální fluktuací","Autozomálně dominantní Segawův syndrom"]},"uk":{"name":"Аутосомно-домінантна дофа-залежна дистонія","synonyms":["Аутосомно-домінантний синдром Сегави","DYT5a","GTPCH1-дефіцитна дофа-реактивна дистонія","DRD з дефіцитом GTPCH1","Спадкова прогресуюча дистонія з вираженими добовими коливаннями","HPD з вираженими добовими коливаннями"],"definition":"A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."},"zh":{"name":"常染色体显性遗传多巴反应性肌张力障碍","synonyms":["昼夜波动明显的遗传性进行性肌张力障碍"],"definition":"一种罕见的神经代谢紊乱，以儿童期起病的肌张力障碍为特征，对低剂量的左旋多巴(L-dopa)表现出剧烈和持续性的反应，可能与老年帕金森症有关。"},"tr":{"name":"Otozomal dominant dopa-duyarlı distoni","synonyms":["DYT5a","GTPCH1-eksik DRD","Otozomal baskın Segawa sendromu","Diurnal belirgin dalgalanma ile seyreden HPD","GTPCH1 eksikliği olan dopaya duyarlı distoni","Diurnal belirgin dalgalanma ile seyreden kalıtsal ilerleyici distoni"]}},"xrefs":[{"source":"OMIM","code":"128230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619911","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1143673207"},{"source":"MONDO","code":"0971063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":101151,"name":"Dystonia 14","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":255,"name":"Dopa-responsive dystonia","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IMPDH2","name":"inosine monophosphate dehydrogenase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34305140[PMID]","hgnc":"6053","ensembl":"ENSG00000178035","omim":"146691","loci":["3p21.31"]},{"symbol":"NR4A2","name":"nuclear receptor subfamily 4 group A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31922365[PMID]","hgnc":"7981","ensembl":"ENSG00000153234","omim":"601828","loci":["2q24.1"]},{"symbol":"GCH1","name":"GTP cyclohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4193","ensembl":"ENSG00000131979","omim":"600225","loci":["14q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-28","source":"22030388[PMID]_20482602[PMID]_16908750[PMID]_12084887[PMID]_11346370[PMID]_1899474[PMID]_3762960[PMID]_942621[PMID]","terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045007","label":"Abnormality of the substantia nigra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003785","label":"Decreased CSF homovanillic acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008297","label":"Transient hyperphenylalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002601","label":"Paresis of extensor muscles of the big toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005876","label":"Progressive flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}