{"orpha":457050,"name":"Autosomal dominant mitochondrial myopathy with exercise intolerance","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457050/","orphanet_url":"https://www.orpha.net/en/disease/detail/457050","names":{"fr":{"name":"Myopathie mitochondriale autosomique dominante avec intolérance à l'effort","definition":"Anomalie rare de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADN nucléaire, caractérisée par l'apparition d'une faiblesse lentement progressive des extrémités proximales des membres inférieurs et d'une intolérance à l'effort au cours de la première décennie de la vie, suivie d'une faiblesse des muscles fléchisseurs du cou, ceux des épaules et les muscles distaux des jambes. L'atteinte se propage aux muscles faciaux plus tard au cours de l'évolution de la maladie. Les autres signes cliniques sont une insuffisance respiratoire restrictive et une petite taille. Les analyses biologiques révèlent une acidose lactique et une augmentation du taux sérique de créatine kinase."},"de":{"name":"Autosomal-dominante mitochondriale Myopathie mit Belastungsintoleranz","definition":"Eine mitochondriale Störung der oxidativen Phosphorylierung, die auf Anomalien der Kern-DNA zurückzuführen ist. Sie ist gekennzeichnet durch den Beginn einer langsam fortschreitenden Schwäche der proximalen unteren Gliedmaßen und Bewegungsunverträglichkeit im ersten Lebensjahrzehnt, gefolgt von einer Schwäche der Nackenbeuger-, Schulter- und distalen Beinmuskulatur. Die Gesichtsmuskeln werden erst später im Krankheitsverlauf betroffen. Weitere Manifestationen sind eine eingeschränkte Lungenfunktion und Kleinwuchs. Laboruntersuchungen zeigen eine Laktatazidämie und eine erhöhte Kreatinkinase im Serum."},"es":{"name":"Miopatía mitocondrial autosómica dominante con intolerancia al ejercicio","definition":"Es un trastorno de la fosforilación oxidativa mitocondrial poco frecuente debido a anomalías del ADN nuclear, caracterizado por debilidad proximal lentamente progresiva de las extremidades inferiores e intolerancia al ejercicio que debuta en la primera década de la vida, seguido de debilidad de los músculos flexores del cuello, de los hombros y de la parte distal de las piernas. Los músculos faciales se ven afectados más tarde en el curso de la enfermedad. Otras manifestaciones adicionales son enfermedad pulmonar restrictiva y talla baja. Las pruebas de laboratorio revelan acidosis láctica y un aumento de la creatinquinasa sérica."},"it":{"name":"Miopatia mitocondriale autosomica dominante con intolleranza all'esercizio fisico","definition":"Si tratta di un difetto raro della fosforilazione ossidativa mitocondriale, causato da anomalie del DNA nucleare, caratterizzato da debolezza a progressione lenta della porzione prossimale degli arti inferiori e intolleranza all'esercizio fisico che esordiscono nella prima decade di vita, seguite da debolezza dei muscoli flessori del collo, delle spalle e della porzione distale delle gambe. Successivamente sono interessati i muscoli facciali. Altri segni clinici sono la pneumopatia restrittiva e la bassa statura. Gli esami di laboratorio evidenziano l'acidemia lattica e l'aumento dei livelli di creatin-chinasi nel siero."},"nl":{"name":"Autosomaal dominante mitochondriale myopathie met bewegingsintolerantie","definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis als gevolg van anomalieën van nucleair DNA, gekarakteriseerd door aanvang in het eerste levensdecennium van traag progressieve zwakte van proximale onderste ledematen en inspanningsintolerantie, gevolgd door zwakte van buigspieren van nek, schouder, en distale beenspieren. Spieren van aangezicht raken later in het ziekteverloop betrokken. Bijkomende manifestaties zijn beperkte longfunctie en kleine gestalte. Laboratoriumanalyses tonen lactaatacidemie en verhoogd gehalte creatinekinase serum."},"pt":{"name":"Miopatia mitocondrial com intolerância ao exercício autossómica dominante"},"pl":{"name":"Autosomalna dominująca miopatia mitochondrialna z nietolerancją wysiłku"},"cs":{"name":"Autozomálně dominantní mitochondriální myopatie s intolerancí cvičení"},"uk":{"name":"Аутосомно-домінантна мітохондріальна міопатія з непереносимістю фізичних навантажень","definition":"A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase."},"zh":{"name":"常染色体显性线粒体肌病伴运动性不耐受","definition":"是一种罕见的核DNA异常引起的线粒体氧化磷酸化病，其特点是在出生前10年开始出现缓慢进行性的下肢近端无力和运动不耐受，随后出现颈屈肌、肩部和腿远端肌肉无力。面部肌肉在病程后期仍会受累。其他表现为肺功能受限和身材矮小。实验室检查显示乳酸血症和血清肌酸激酶升高。"},"tr":{"name":"Egzersiz intoleransı ile seyreden otozomal dominant mitokondriyal miyopati"}},"xrefs":[{"source":"OMIM","code":"616209","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014532","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CHCHD10","name":"coiled-coil-helix-coiled-coil-helix domain containing 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25193783[PMID]","hgnc":"15559","ensembl":"ENSG00000250479","omim":"615903","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"9324076[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9324076[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-03","source":"25193783[PMID]_9324076[PMID]","terms":[{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012240","label":"Increased intramyocellular lipid droplets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040014","label":"Increased mitochondrial number","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null}]}}