{"orpha":254851,"name":"Mitochondrial DNA-related dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Maternally-inherited mitochondrial dystonia","mtDNA-related dystonia"],"definition":"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254851/","orphanet_url":"https://www.orpha.net/en/disease/detail/254851","names":{"fr":{"name":"Dystonie due à une mutation de l'ADN mitochondrial","synonyms":["Dystonie due à une mutation de l'ADNmt","Dystonie mitochondriale de transmission maternelle"],"definition":"La dystonie mitochondriale de transmission maternelle est un trouble neurologique rare lié à l'ADN mitochondrial caractérisé sur le plan clinique par une dystonie progressive de sévérité variable, débutant à l'âge pédiatrique."},"de":{"name":"Mitochondriale DNA-assoziierte Dystonie","synonyms":["Maternal vererbte mitochondriale Dystonie","mtDNA-assoziierte Dystonie"],"definition":"Die mütterlich vererbte Mitochondriale Dystonie ist eine seltene, durch Veränderungen der mitochondrialen DNA bedingte neurologische Störung und klinisch gekennzeichnet durch im Kindesalter beginnende, unterschiedlich schwer verlaufende progrediente Dystonie."},"es":{"name":"Distonía asociada al ADN mitocondrial","synonyms":["Distonía asociada al ADNmt","Distonía mitocondrial de herencia materna"],"definition":"La distonía mitocondrial de herencia materna es un trastorno neurológico poco frecuente relacionado con el ADN mitocondrial, clínicamente caracterizado por una distonía progresiva de aparición pediátrica con grados variables de gravedad."},"it":{"name":"Distonia mitocondriale a trasmissione materna","definition":"La distonia mitocondriale a trasmissione materna è un raro disturbo neurologico dovuto ad una mutazione nel DNA mitocondriale, caratterizzato da distonia progressiva, di gravità variabile, ad esordio nell'età pediatrica."},"nl":{"name":"Mitochondriaal DNA-gerelateerde dystonie","synonyms":["Maternaal overgeërfde mitochondriale dystonie","mtDNA-gerelateerde dystonie"],"definition":"Een zeldzame neurologische mitochondriaal DNA-gerelateerde aandoening, klinisch gekenmerkt door progressieve pediatrisch optredende dystonie met variabele gradaties van ernst."},"pt":{"name":"Distonia relacionada com ADN mitocondrial","synonyms":["Distonia mitocondrial com hereditariedade materna"]},"pl":{"name":"Dystonia mitochondrialna dziedziczona od matki","synonyms":["Maternally-inherited mitochondrial dystonia","mtDNA-related dystonia"]},"cs":{"name":"Maternálně dědičná mitochondriální dystonie","synonyms":["Maternally-inherited mitochondrial dystonia","mtDNA-related dystonia"]},"uk":{"name":"Мітохондріальна ДНК-повязана дистонія","synonyms":["Мітохондріальна дистонія, успадкована від матері","Дистонія, повязана з мтДНК"],"definition":"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity."},"zh":{"name":"线粒体DNA相关肌张力障碍","synonyms":["母系遗传的线粒体肌张力障碍"],"definition":"母系遗传性线粒体肌张力障碍是一种罕见的神经线粒体DNA相关疾病，临床特征为幼儿起病且进行性发展，严重程度不一。"},"tr":{"name":"Mitokondriyal DNA -ilişkili distoni","synonyms":["mtDNA-ilişkili distoni","Maternal-geçişli mitokondriyal distoni"]}},"xrefs":[{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"659048094"},{"source":"MONDO","code":"0016806","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}