{"orpha":255,"name":"Dopa-responsive dystonia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["HPD with diurnal fluctuation","Hereditary progressive dystonia with diurnal fluctuation"],"definition":"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255/","orphanet_url":"https://www.orpha.net/en/disease/detail/255","names":{"fr":{"name":"Dystonie dopa-sensible","synonyms":["Dystonie progressive héréditaire avec fluctuations diurnes"],"definition":"La dystonie dopa-sensible (DRD) décrit un ensemble de perturbations neurométaboliques caractérisées par une dystonie avec fluctuations diurnes. Elle répond très bien à la lévodopa (L-dopa) et comprend trois sous-types : la dystonie dopa-sensible autosomique dominante (DYT5a), la dystonie dopa-sensible autosomique récessive (DYT5b) et la dystonie dopa-sensible par déficit en sépiaptérine réductase (SR)."},"de":{"name":"Dopa-sensitive Dystonie","synonyms":["HPD mit Tagesschwankungen","Hereditäre progressive Dystonie mit Tagesschwankungen"],"definition":"Die Dopa-responsive Dystonie (DRD) umfasst eine Gruppe neurometabolischer Krankheiten mit Dystonie, die sehr gut auf Levodopa (L-Dopa) ansprechen. Zu ihr gehören die autosomal-dominante Dopa-responsive Dystonie (DYT5a), die autosomal-rezessive Dopa-responsive Dystonie (DYT5b) und die Dopa-responsive Dystonie durch Sepiapterin-Reduktase (SR)-Mangel (siehe diese Termini)."},"es":{"name":"Distonía dopa-sensible","synonyms":["Distonía progresiva hereditaria con fluctuación diurna","HPD con fluctuación diurna"],"definition":"El término distonía sensible a dopa (DRD) describe un grupo de trastornos neurometabólicos caracterizados por una distonía que normalmente muestra fluctuaciones diurnas, responde de manera excelente a la levodopa (L-dopa) y en el que se incluyen la distonía sensible a dopa autosómica dominante (DYT5a), la distonía sensible a dopa autosómica recesiva (DYT5b) y la distonía sensible a dopa causada por deficiencia de sepiapterina-reductasa (SR) (ver estos términos)."},"it":{"name":"Distonia Dopa-sensibile","synonyms":["Distonia progressiva ereditaria con fluttuazione diurna","HPD con fluttuazione diurna"],"definition":"La distonia Dopa-sensibile (DRD) definisce un gruppo di malattie neurometaboliche associate a distonia, che presentano fluttuazioni diurne caratteristiche e rispondono in modo eccellente alla Levodopa (L-Dopa). Comprende la distonia Dopa-sensibile autosomica dominante (DYT5a), la distonia Dopa-sensibile autosomica recessiva (DYT5b) e la distonia Dopa-sensibile da deficit di sepiapterina reduttasi (SRD) (si vedano questi termini)."},"nl":{"name":"Doparesponsieve dystonie","synonyms":["Erfelijke progressieve dystonie met dagelijkse fluctuaties","HPD met dagelijkse schommelingen"],"definition":"Doparesponsieve dystonie (DRD) beschrijft een groep van neurometabole aandoeningen die worden gekarakteriseerd door dystonie, die typisch diurnale schommelingen vertonen, en die heel goed reageren op levodopa (L-DOPA). Deze groep omvat autosomaal dominante doparesponsieve dystonie (DYT5a), autosomaal recessieve doparesponsieve dystonie (DYT5b) en doparesponsieve dystonie als gevolg van sepiapterinereductasedeficiëntie (SR) (zie deze termen)."},"pt":{"name":"Distonia sensível à dopa","synonyms":["Distonia progressiva hereditária com variação diurna marcada","Síndrome Segawa"]},"pl":{"name":"Dystonia wrażliwa na lewodopę","synonyms":["Dziedziczna postępująca dystonia z wahaniami dobowymi","HPD z wahaniami dobowymi"],"definition":"Dystonia wrażliwa na dopę obejmuje grupę zaburzeń neurometabolicznych charakteryzujących się dystonią, która zazwyczaj wykazuje wahania dobowe i doskonale reaguje na lewodopę (L-dopę). Należy do niej dystonia wrażliwa na dopę o dziedziczeniu autosomalnym dominującym (DYT5a), dystonia wrażliwa na dopę o dziedziczeniu autosomalnym recesywnym (DYT5b) oraz dystonia wrażliwa na dopę spowodowana niedoborem reduktazy sepiapteryny (SR)."},"cs":{"name":"Dopa-responzivní dystonie","synonyms":["HPD s diurnální fluktuací","Hereditární progresivní dystonie s diurnální fluktuací"]},"uk":{"name":"Дофа-залежна дистонія","synonyms":["Спадкова прогресуюча дистонія з добовими коливаннями","HPD з добовим коливанням"],"definition":"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency."},"zh":{"name":"多巴反应性肌张力障碍","synonyms":["遗传性进行性肌张力不全伴昼夜波动"]},"tr":{"name":"Dopa-duyarlı distoni","synonyms":["Diurnal dalgalanma ile seyreden HPD","Diurnal dalgalanma ile seyreden kalıtsal ilerleyici distoni"]}},"xrefs":[{"source":"ICD-11","code":"8A02.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1534901505"},{"source":"MONDO","code":"0016812","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16812","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851920","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309819,"name":"Disorder of pterin metabolism","classifications":[150,156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]}],"children":[{"orpha":98808,"name":"Autosomal dominant dopa-responsive dystonia","type":"Disease"},{"orpha":101150,"name":"Autosomal recessive dopa-responsive dystonia","type":"Disease"},{"orpha":70594,"name":"Dopa-responsive dystonia due to sepiapterin reductase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Worldwide","status":"Validated","source":"8420194[PMID]_19533203[PMID]"}],"phenotypes":null}