{"orpha":280671,"name":"Megaconial congenital muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital megaconial myopathy","Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect","Congenital muscular dystrophy with mitochondrial structural abnormalities"],"definition":"A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280671/","orphanet_url":"https://www.orpha.net/en/disease/detail/280671","names":{"fr":{"name":"Dystrophie musculaire congénitale mégaconiale","synonyms":["Dystrophie musculaire congénitale avec anomalies de la structure mitochondriale","Dystrophie musculaire congénitale par défaut de biosynthèse de la phosphatidylcholine","Myopathie mégaconiale congénitale"],"definition":"Maladie génétique rare du muscle squelettique caractérisée par une hypotonie à début précoce, une faiblesse musculaire, un retard de développement global avec déficience intellectuelle et une cardiomyopathie. Des anomalies cardiaques structurelles congénitales et des lésions cutanées ichtyosiformes ont également été associées. La biopsie musculaire met en évidence une augmentation caractéristique de la taille des mitochondries en périphérie des fibres musculaires."},"de":{"name":"Muskeldystrophie, megakoniale kongenitale","synonyms":["Kongenitale Muskeldystrophie mit mitochondrialen Strukturanomalien","Megakoniale Myopathie, kongenitale","Muskeldystrophie, kongenitale, durch Phosphatidylcholin-Biosynthesestörung"],"definition":"Eine seltene, genetisch bedingte Skelettmuskelerkrankung, die durch eine früh einsetzende Hypotonie, Muskelschwäche, globale Entwicklungsverzögerung mit intellektueller Entwicklungsstörung und Kardiomyopathie gekennzeichnet ist. Angeborene strukturelle Herzfehler und ichthyosiforme Hautläsionen wurden ebenfalls beschrieben. Die Muskelbiopsie zeigt charakteristische vergrößerte Mitochondrien, die sich an der Peripherie der Muskelfasern befinden."},"es":{"name":"Distrofia muscular congénita megaconial","synonyms":["Distrofia muscular congénita con anomalías mitocondriales estructurales","Distrofia muscular congénita por un defecto de la biosíntesis de fosfatidilcolina","Miopatía megaconial congénita"],"definition":"Es una enfermedad del músculo esquelético, genética y poco frecuente, caracterizada por un inicio temprano de hipotonía, debilidad muscular, retraso global del desarrollo con discapacidad intelectual y miocardiopatía. La enfermedad también asocia cardiopatías estructurales congénitas y lesiones cutáneas ictiosiformes. La biopsia muscular revela mitocondrias agrandadas características localizadas en la periferia de las fibras musculares."},"it":{"name":"Distrofia muscolare megaconiale congenita","synonyms":["Distrofia muscolare congenita con anomalie strutturali dei mitocondri","Distrofia muscolare congenita da difetto della biosintesi della fosfatidilcolina","Miopatia megaconiale congenita"],"definition":"È una malattia muscoloscheletrica genetica rara, caratterizzata da ipotonia ad esordio precoce, debolezza muscolare, ritardo dello sviluppo globale, disabilità intellettiva e cardiomiopatia. Può associarsi a difetti congeniti della struttura cardiaca e lesioni cutanee ittiosiformi. La biopsia muscolare evidenzia i caratteristici mitocondri ingrossati localizzati alla periferia delle fibre muscolari."},"nl":{"name":"Megaconiale congenitale musculaire dystrofie","synonyms":["Megaconiale congenitale spierdystrofie","Congenitale megaconiale myopathie","Congenitale musculaire dystrofie door een fosfatidylcholinebiosynthesedefect","Congenitale musculaire dystrofie met mitochondriale structurele afwijkingen","Congenitale spierdystrofie door een fosfatidylcholinebiosynthesedefect"],"definition":"Een zeldzame, genetische ziekte van de skeletspieren, gekarakteriseerd door een vroeg aanvangende hypotonie, spierzwakte, algehele ontwikkelingsachterstand met intellectuele achterstand, en cardiomyopathie. Congenitale structurele hartdefecten en ichthyosiforme huidletsels werden ook reeds geassocieerd. Analyse van spierbiopten toont kenmerkende vergrote mitochondriën gesitueerd in de periferie van spiervezels."},"pt":{"name":"Distrofia muscular congénita por deficiência na biossíntese de fosfatidil-colina"},"pl":{"name":"Wrodzona dystrofia mięśniowa z powodu defektu biosyntezy fosfatydylocholiny","synonyms":["Wrodzona dystrofia mięśni typu megaconial","Wrodzona dystrofia mięśniowa z zaburzeniami struktury mitochondriów","Wrodzona miopatia typu megaconial"]},"cs":{"name":"Vrozená muskulární dystrofie způsobená poruchou syntézy fosfatidylcholinu","synonyms":["Congenital megaconial myopathy","Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect","Congenital muscular dystrophy with mitochondrial structural abnormalities"]},"uk":{"name":"Мегаконіальна вроджена мязова дистрофія","synonyms":["Вроджена мегаконіальна міопатія","Вроджена мязова дистрофія внаслідок дефекту біосинтезу фосфатидилхоліну","Вроджена мязова дистрофія з мітохондріальними структурними аномаліями"],"definition":"A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers."},"zh":{"name":"MEGACONIAL型先天性肌营养不良","synonyms":["磷脂酰胆碱生物合成缺陷所致先天性肌营养不良"],"definition":"一种罕见的遗传性骨骼肌病变，特征是早发性肌张力减退、肌无力、全面发育迟缓伴智力残疾和心肌病。与结构异常的先天性心脏病和鱼鳞病相关。肌肉活检显示肌纤维周围的线粒体增大。"},"tr":{"name":"Megakonial Doğumsal kas distrofisi","synonyms":["Doğumsal megakoniyal miyopati","Mitokondriyal yapısal anormallikler ile seyreden doğumsal kas distrofisi","Fosfatidilkolin biyosentez defektine bağlı doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"602541","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"515608669"},{"source":"MONDO","code":"0011246","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10317","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","classifications":[150,156]}],"children":[],"genes":[{"symbol":"CHKB","name":"choline kinase beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21665002[PMID]_22782513[PMID]","hgnc":"1938","ensembl":"ENSG00000100288","omim":"612395","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"23945283[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}