{"orpha":254803,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["mtDNA depletion syndrome, encephalomyopathic form"],"definition":"Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254803/","orphanet_url":"https://www.orpha.net/en/disease/detail/254803","names":{"fr":{"name":"Syndrome de déplétion de l'ADN mitochondrial forme encéphalomyopathique","synonyms":["Syndrome de déplétion de l'ADNmt forme encéphalomyopathique"],"definition":"Groupe de syndromes de maintenance de l'ADN mitochondrial caractérisés par des manifestations majoritairement neuromusculaires, avec l'apparition généralement infantile d'une hypotonie, d'une acidose lactique, d'un retard psychomoteur, de troubles moteurs hyperkinétiques-dystoniques progressifs, d'ophtalmoplégie externe, de surdité neurosensorielle, de crises épileptiques généralisées et d'un dysfonctionnement tubulaire rénal variable. Le syndrome peut être associé à de nombreuses autres caractéristiques cliniques."},"de":{"name":"Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form","synonyms":["mtDNA-Depletionssyndrom, enzephalomyopathische Form"],"definition":"Die enzephalomyopathische Form des mitochondrialen DNA-Depletionssyndroms gehört zu der Gruppe der mtDNA-Maintenance-Syndrom-Störungen. Es ist gekennzeichnet durch vorwiegend neuromuskuläre Manifestationen mit typischerweise infantilem Beginn von Hypotonie, Laktatazidose, psychomotorischer Verzögerung, progressiven hyperkinetisch-dystonen Bewegungsstörungen, externer Ophtalmoplegie, sensorischer Schwerhörigkeit, generalisierten Anfällen und variabler renaler tubulärer Dysfunktion. Die Krankheit kann mit einer breiten Palette weiterer klinischer Merkmale einhergehen."},"es":{"name":"Síndrome de depleción del ADN mitocondrial, forma encefalomiopática","synonyms":["Síndrome de depleción del ADNmt, forma encefalomiopática"],"definition":"Es un grupo de enfermedades del síndrome de mantenimiento del ADN mitocondrial caracterizadas por la manifestación predominantemente neuromuscular, típicamente con hipotonía iniciada en la lactancia, acidosis láctica, retraso psicomotor, trastornos progresivos del movimiento hipercinético-distónico, oftalmoplejía externa, pérdida auditiva neurosensorial, convulsiones generalizadas y disfunción tubular renal variable. También puede tener asociada una amplia gama de diferentes manifestaciones clínicas."},"it":{"name":"Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica","synonyms":["Sindrome da deplezione del mtDNA, forma encefalomiopatica"],"definition":"La forma encefalomiopatica della sindrome da deplezione del DNA mitocondriale comprende un gruppo di malattie della sindrome da mantenimento del DNA mitocondriale, caratterizzate prevalentemente da sintomi neuromuscolari. Di solito l'esordio avviene nel periodo neonatale con ipotonia, acidosi lattica, ritardo psicomotorio, movimenti ipercinetici-distonici progressivi, oftalmoplegia esterna, sordità neurosensoriale, crisi epilettiche generalizzate e disfunzione tubulare renale di gravità variabile. Possono associarsi altri segni clinici."},"nl":{"name":"Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm","synonyms":["mtDNA-depletiesyndroom, encefalomyopathische vorm"],"definition":"Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm is een groep syndromale aandoeningen van het mitochondriale DNA-onderhoud die gekarakteriseerd worden door voornamelijk neuromusculaire manifestaties met typisch infantiele aanvang van hypotonie, lactaatacidose, psychomotorische achterstand, progressieve hyperkinetische-dystonische bewegingsstoornissen, externe oftalmoplegie, sensorineuraal gehoorverlies, gegeneraliseerde insulten en variabele renale tubulaire disfunctie. Het kan geassocieerd zijn met een brede waaier van andere klinische kenmerken."},"pt":{"name":"Síndrome de depleção do ADN mitocondrial, forma encefalomiopática","synonyms":["Síndrome de depleção do ADNmt, forma encefalomiopática"]},"pl":{"name":"Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna","synonyms":["Zespół deplecji mtDNA, postać encefalomiopatyczna"],"definition":"*Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna (mózgowo-mięśniowa) należy do schorzeń związanych z mutacjami mitochondrialnego DNA, które typowo charakteryzują się objawami nerwowo-mięśniowymi z hipotonią o początku w wieku niemowlęcym, kwasicą mleczanową, opóźnieniem psychoruchowym, postępującymi zaburzeniami ruchowymi o typie hiperkinezji-dystonii, oftalmoplegią zewnętrzną, niedosłuchem zmysłowo-nerwowym, uogólnionymi napadami drgawkowymi i zróżnicowaną dysfunkcją kanalików nerkowych. Mogą wystąpić liczne inne objawy kliniczne."},"cs":{"name":"Syndrom deplece mitochondriální DNA, encefalomyopatická forma","synonyms":["Syndrom deplece mtDNA, encefalomyopatická forma"]},"uk":{"name":"Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма","synonyms":["Синдром виснаження мтДНК, енцефаломіопатична форма"],"definition":"Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features."},"zh":{"name":"脑肌病型线粒体DNA缺失综合征","synonyms":["线粒体DNA缺失综合征脑肌病型"],"definition":"线粒体DNA短缺综合征脑肌病型是一组以神经肌肉表现为主要特征的线粒体DNA维持综合征疾病，主要表现为婴儿期起病的肌张力低下、乳酸中毒、精神运动延迟、进行性多动-肌张力障碍性运动障碍、外眼肌麻痹、感音神经性听力损失、全身性癫痫和程度不等的肾小管功能障碍。它可能与广泛的其他临床特征有关。"},"tr":{"name":"Mitokondriyal DNA tükenme sendromu, ensefalomiyopatik form","synonyms":["mtDNA tükenme sendromu, ensefalomiyopatik form"]}},"xrefs":[{"source":"OMIM","code":"612073","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612075","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0016796","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16796","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35698,"name":"Mitochondrial DNA depletion syndrome","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":17,"name":"Fatal infantile lactic acidosis with methylmalonic aciduria","type":"Disease"},{"orpha":1933,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","type":"Disease"},{"orpha":255235,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","type":"Disease"},{"orpha":369897,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}