{"orpha":254788,"name":"Mitochondrial DNA-related mitochondrial myopathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Maternally-inherited mitochondrial myopathy","mtDNA-related mitochondrial myopathy"],"definition":"A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254788/","orphanet_url":"https://www.orpha.net/en/disease/detail/254788","names":{"fr":{"name":"Myopathie due à une mutation de l'ADN mitochondrial","synonyms":["Myopathie due à une mutation de l'ADNmt","Myopathie mitochondriale de transmission maternelle"],"definition":"Groupe d'anomalies rares de la phosphorylation oxydative mitochondriale dues à des anomalies de l'ADN mitochondrial, caractérisées par une myopathie progressive, le plus souvent proximale, accompagnée d'une faiblesse, de douleurs musculaires induites par l'exercice et d'une fatigue de degrés variables. Une ophtalmoplégie externe progressive est souvent observée. Parmi les autres caractéristiques on peut citer des signes et symptômes neurologiques (crises convulsives, épisodes similaires à des accidents vasculaires cérébraux ou retard de développement), une cardiomyopathie, une atteinte du foie, des reins et du tractus gastro-intestinal, ainsi qu'un diabète. Une acidose lactique est fréquemment présente, tandis qu'une rhabdomyolyse récurrente et une myoglobinurie sont rares. La biopsie musculaire peut révéler la présence de fibres rouges déchiquetées et d'une mosaïque de fibres COX (cytochrome-c oxydase) négatives."},"de":{"name":"Mitochondriale Myopathie, mitochondriale DNA-assoziierte","synonyms":["Maternal vererbte mitochondriale Myopathie","mtDNA-assoziierte mitochondriale Myopathie"],"definition":"Eine Gruppe seltener mitochondrialer Störungen der oxidativen Phosphorylierung aufgrund mitochondrialer DNA-Anomalien, die durch eine fortschreitende, meist proximale Myopathie mit unterschiedlich stark ausgeprägter Schwäche, belastungsinduzierten Muskelschmerzen und Müdigkeit gekennzeichnet sind. Häufig wird eine fortschreitende externe Ophthalmoplegie beobachtet. Weitere Merkmale sind neurologische Anzeichen und Symptome (wie Krampfanfälle, schlaganfallähnliche Episoden oder Entwicklungsverzögerungen), Kardiomyopathie, Beteiligung von Leber, Nieren und Magen-Darm-Trakt sowie Diabetes. Häufig tritt eine Laktatazidose auf, während rezidivierende Rhabdomyolyse und Myoglobinurie selten sind. Eine Muskelbiopsie kann das Vorhandensein von zackig-roten Fasern und ein Mosaikmuster von Cytochrom-c-Oxidase-negativen Fasern zeigen."},"es":{"name":"Miopatía mitocondrial asociada al ADN mitocondrial","synonyms":["Miopatía mitocondrial asociada al ADNmt","Miopatía mitocondrial de herencia materna"],"definition":"Es un grupo de trastornos de la fosforilación oxidativa mitocondrial poco frecuente debido a anomalías del ADN mitocondrial, caracterizado por miopatía progresiva, principalmente proximal, con diversos grados de debilidad, dolor muscular desencadenado por el ejercicio y cansancio. A menudo se observa oftalmoplejía externa progresiva. Otros hallazgos adicionales incluyen signos y síntomas neurológicos (como crisis epilépticas, episodios similares a un accidente cerebrovascular o retraso psicomotor), miocardiopatía, afectación hepática, renal y del tracto digestivo, así como diabetes. La acidosis láctica se presenta con frecuencia, mientras que la rabdomiólisis y la mioglobinuria recurrentes son ocasionales. La biopsia muscular puede revelar la presencia de fibras rojas rasgadas y un patrón en mosaico de fibras citocromo-C oxidasa negativas."},"it":{"name":"Miopatia mitocondriale correlata al DNA mitocondriale","definition":"Si tratta di un gruppo di difetti rari della fosforilazione ossidativa mitocondriale, causati da anomalie del DNA mitocondriale, caratterizzati da miopatia progressiva, per lo più prossimale, con debolezza, dolore muscolare indotto dall'esercizio fisico e affaticamento di gravità variabile. È comune l'oftalmoplegia esterna progressiva. I pazienti possono presentare anche sintomi neurologici (crisi epilettiche, episodi simil-ictus o ritardo dello sviluppo), cardiomiopatia, interessamento del fegato, dei reni e del tratto gastrointestinale, e diabete. L'acidosi lattica è comune, mentre la rabdomiolisi ricorrente e la mioglobinuria sono rare. La biopsia muscolare evidenzia la presenza di fibre rosse sfilacciate e un mosaico di fibre negative alla citocromo C ossidasi."},"nl":{"name":"Mitochondriaal DNA-gerelateerde mitochondriale myopathie","synonyms":["Maternaal overgeërfde mitochondriale myopathie","mtDNA-gerelateerde mitochondriale myopathie"],"definition":"Een groep van zeldzame mitochondriale oxidatieve fosforylatiestoornissen als gevolg van anomalieën van mitochondriaal DNA, gekenmerkt door progressieve, doorgaans proximale, myopathie met variabele gradaties van zwakte, inspanningsgeïnduceerde spierpijn, en vermoeidheid. Progressieve externe oftalmoplegie wordt vaak waargenomen. Bijkomende kenmerken zijn onder meer neurologische verschijnselen en symptomen (zoals insulten, beroerte-achtige episodes, of ontwikkelingsachterstand), cardiomyopathie, betrokkenheid van lever, nieren en maag-darmstelsel, en diabetes. Lactaatacidose is vaak aanwezig, terwijl recidiverende rhabdomyolyse en myoglobinurie maar zelden voorkomen. Spierbiopsie toont mogelijk de aanwezigheid van rafelige rode vezels en een mozaïekpatroon van cytochroom c oxidase-negatieve vezels."},"pt":{"name":"Miopatia mitocondrial ADN mitocondrial-relacionada","synonyms":["Miopatia mitocondrial ADNmt-relacionada","Miopatia mitocondrial com hereditariedade materna"]},"pl":{"name":"Miopatia mitochondialna dziedziczona od matki","synonyms":["Maternally-inherited mitochondrial myopathy","mtDNA-related mitochondrial myopathy"]},"cs":{"name":"Maternálně zděděná mitochondriální myopatie","synonyms":["Maternally-inherited mitochondrial myopathy","mtDNA-related mitochondrial myopathy"]},"uk":{"name":"Мітохондріальна міопатія, повязана з мітохондріальною ДНК","synonyms":["Мітохондріальна міопатія, успадкована від матері","мітохондріальна міопатія, повязана з мтДНК"],"definition":"A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers."},"zh":{"name":"线粒体DNA相关线粒体肌病","synonyms":["母系遗传的线粒体肌病"]},"tr":{"name":"Mitokondriyal DNA -ilişkili mitokondriyal miyopati","synonyms":["mtDNA-ilişkili mitokondriyal miyopati","Maternal-geçişli mitokondriyal miyopati"]}},"xrefs":[{"source":"MONDO","code":"16794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569013","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]}],"children":[{"orpha":254857,"name":"Lethal infantile mitochondrial myopathy","type":"Disease"},{"orpha":254864,"name":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","type":"Disease"},{"orpha":2596,"name":"Myopathy and diabetes mellitus","type":"Disease"},{"orpha":254854,"name":"Pure mitochondrial myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":[],"prevalence":[],"phenotypes":null}