{"orpha":254857,"name":"Lethal infantile mitochondrial myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LIMD","LIMM","Lethal infantile mitochondrial disease"],"definition":"Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254857/","orphanet_url":"https://www.orpha.net/en/disease/detail/254857","names":{"fr":{"name":"Myopathie mitochondriale létale infantile","synonyms":["LIMD","Maladie mitochondriale létale infantile"],"definition":"Un trouble rare de la phosphorylation oxydative mitochondriale caractérisé par une hypotonie généralisée progressive, une ophtalmoplégie externe progressive et une acidose lactique sévère, pouvant être fatale précocement (entre quelques jours à quelques mois après la naissance). Les patients peuvent présenter une léthargie et une aréflexie, ainsi que des signes additionnels comme une cardiomyopathie, une dysfonction rénale, une atteinte hépatique et des convulsions."},"de":{"name":"Letale mitochondriale Myopathie des Kindes","synonyms":["LIMD","LIMM","Mitochondriopathie, infantile letale"],"definition":"Die letale infantile mitochondriale Myopathie ist eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die durch eine progressive generalisierte Hypotonie, eine progressive externe Ophthalmoplegie und eine schwere Laktatazidose gekennzeichnet ist und zu einem frühen Tod führt (Tage bis Monate nach der Geburt). Die Patienten können sich mit Lethargie und Areflexie präsentieren und zusätzliche Merkmale wie Kardiomyopathie, Nierenfunktionsstörung, Leberbeteiligung und Krampfanfälle aufweisen."},"es":{"name":"Miopatía mitocondrial letal del lactante","synonyms":["Enfermedad mitocondrial letal del lactante","LIMD","LIMM"],"definition":"La miopatía mitocondrial letal infantil, es un trastorno mitocondrial de la fosforilación oxidativa poco frecuente caracterizado por hipotonía generalizada progresiva, oftalmoplejía externa progresiva y acidosis láctica grave con un desenlace fatal (días a meses después del nacimiento). Los afectados pueden presentar letargia y arreflexia asociadas a otros hallazgos adicionales, tales como cardiomiopatía, disfunción renal, compromiso hepático y convulsiones."},"it":{"name":"Miopatia mitocondriale infantile letale","synonyms":["LIMD","Malattia mitocondriale infantile letale"],"definition":"La miopatia mitocondriale infantile letale è una malattia rara della fosforilazione ossidativa mitocondriale, caratterizzata da ipotonia generalizzata progressiva, oftalmoplegia esterna progressiva e acidosi lattica grave, che esita nella morte prematura (giorni o mesi dopo la nascita). I pazienti presentano letargia, areflessia ed altri segni clinici come le cardiomiopatie, la disfunzione renale, l'interessamento epatico e le crisi epilettiche."},"nl":{"name":"Letale infantiele mitochondriale myopathie","synonyms":["LIMD","LIMM","Letale infantiele mitochondriale ziekte"],"definition":"Letale infantiele mitochondriale myopathie is een zeldzame mitochondriale oxidatieve fosforylatiestoornis en wordt gekarakteriseerd door progressieve gegeneraliseerde hypotonie, progressieve externe oftalmoplegie en ernstige lactaatacidose, die resulteert in vroegtijdig overlijden (dagen tot maanden na de geboorte). Patiënten kunnen lethargie en areflexie vertonen, en mogelijk geassocieerde bijkomende kenmerken zoals cardiomyopathie, nierdisfunctie, betrokkenheid van de lever, en insulten."},"pt":{"name":"Miopatia mitocondrial da infância letal","synonyms":["Doença mitocondrial da infância letal","LIMD"]},"pl":{"name":"Śmiertelna niemowlęca miopatia mitochondrialna","synonyms":["LIMD","LIMM","Śmiertelna niemowlęca choroba mitochondrialna"]},"cs":{"name":"Dětská letální mitochondriální myopatie","synonyms":["LIMD","Dětská letální mitochondriální porucha"]},"uk":{"name":"Летальна інфантильна мітохондріальна міопатія","synonyms":["Летальна дитяча мітохондріальна хвороба","LIMD","LIMM"],"definition":"Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures."},"zh":{"name":"致命型婴儿线粒体肌病","synonyms":["致命型婴儿线粒体疾病"],"definition":"致死性婴儿线粒体肌病是一种罕见的线粒体氧化磷酸化障碍，以进行性全身性肌张力低下、进行性眼外肌麻痹和严重乳酸酸中毒为特征，可导致早期死亡(出生后数天至数月)。患者可能出现嗜睡和反射不全，并可能与其他特征相关，如心肌病、肾功能不全、肝脏受累和癫痫发作。"},"tr":{"name":"Letal infantil mitokondriyal miyopati","synonyms":["LIMD","LIMM","Letal infantil mitokondriyal hastalık"]}},"xrefs":[{"source":"OMIM","code":"551000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"642272262"},{"source":"MONDO","code":"0010792","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838876","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254788,"name":"Mitochondrial DNA-related mitochondrial myopathy","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MT-TT","name":"mitochondrially encoded tRNA-Thr (ACN)","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":"1645537[PMID]","hgnc":"7499","ensembl":"ENSG00000210195","omim":"590090","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-25","source":"11041514[PMID]_2549452[PMID]_1379415[PMID]_1645537[PMID]","terms":[{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004900","label":"Severe lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006583","label":"Fatal liver failure in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}