{"orpha":521305,"name":"Proximal myopathy with focal depletion of mitochondria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521305/","orphanet_url":"https://www.orpha.net/en/disease/detail/521305","names":{"fr":{"name":"Myopathie proximale avec déplétion mitochondriale focale","definition":"Maladie neuromusculaire génétique rare caractérisée par l'apparition tardive d'une faiblesse musculaire proximale légère et progressive, des myalgies sévères pendant et après l'exercice, et par une susceptibilité à la rhabdomyolyse. La déficience intellectuelle est légère, voire, absente. L'examen de la peau est normal. La biopsie musculaire montre une déplétion focale des mitochondries, surtout au centre des fibres musculaires, entourées de mitochondries périphériques hypertrophiées."},"de":{"name":"Proximale Myopathie mit fokaler mitochondrialer Depletion","definition":"Eine genetisch bedingte neuromuskuläre Erkrankung, die durch den späten Beginn einer leichten progressiven proximalen Muskelschwäche, schwere Myalgien während und nach körperlicher Anstrengung und eine Anfälligkeit für Rhabdomyolyse gekennzeichnet ist. Eine Intelligenzminderung ist gering oder nicht vorhanden. Die Haut weist keine Anomalien auf. Die Muskelbiopsie zeigt eine fokale Verarmung der Mitochondrien, insbesondere im Zentrum der Muskelfasern, umgeben von vergrößerten Mitochondrien in der Peripherie."},"es":{"name":"Miopatía proximal con depleción mitocondrial focal","definition":"Es una enfermedad neuromuscular genética poco frecuente que se caracteriza por la aparición tardía de debilidad muscular proximal leve progresiva, mialgias graves durante y después del ejercicio y susceptibilidad a la rabdomiólisis. La discapacidad intelectual es leve o está ausente. No asocia anomalías de la piel. La biopsia muscular muestra una reducción focal de las mitocondrias, especialmente en el centro de las fibras musculares, rodeado de mitocondrias de mayor tamaño en la periferia."},"it":{"name":"Miopatia prossimale con deplezione focale dei mitocondri","definition":"Si tratta di una malattia neuromuscolare genetica rara, caratterizzata dalla debolezza lieve ma progressiva dei muscoli distali ad esordio tardivo, dalla mialgia grave durante e dopo l'esercizio fisico e dalla tendenza alla rabdomiolisi. La disabilità intellettiva è sfumata o assente. Non sono presenti alterazioni cutanee. La biopsia muscolare rivela una deplezione focale dei mitocondri, in particolare al centro delle fibre muscolari, circondata da mitocondri periferici ingrossati."},"nl":{"name":"Proximale myopathie met focale depletie van mitochondria","definition":"Een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door late aanvang van milde, progressieve, proximale spierzwakte, ernstige myalgie tijdens en na fysieke inspanning, en susceptibiliteit voor rabdomyolyse. Intellectuele achterstand is mild of afwezig. Er zijn geen afwijkingen van huid aanwezig. Spierbiopsie toont focale depletie van mitochondriën, vooral in het centrum van spiervezels, omringd door vergrote mitochondriën in de periferie."},"pt":{"name":"Miopatia proximal com deplecção mitocondrial focal"},"pl":{"name":"Miopatia proksymalna z ogniskowym wyczerpaniem puli mitochondrialnej"},"cs":{"name":"Proximální myopatie s fokální deplecí mitochondrií"},"uk":{"name":"Проксимальна міопатія з фокальним виснаженням мітохондрій","definition":"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery."},"zh":{"name":"线粒体局灶性耗竭的近端肌病","definition":"一种罕见的遗传性神经肌肉病，其特点是晚期出现轻度进行性近端肌无力，运动中和运动后出现严重的肌无力，并易发生横纹肌溶解症。智力障碍轻度或无。皮肤无异常。肌肉活检显示线粒体局灶性耗竭，尤其是在肌纤维中心，周围有增大的线粒体。"},"tr":{"name":"Mitokondrinin fokal deplesyonu ile seyreden proksimal miyopati"}},"xrefs":[{"source":"OMIM","code":"600706","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010923","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563453","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833453","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CHKB","name":"choline kinase beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26782016[PMID]_27169979[PMID]","hgnc":"1938","ensembl":"ENSG00000100288","omim":"612395","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26782016[PMID]_27169979[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26782016[PMID]_27169979[PMID]"}],"phenotypes":null}