{"orpha":595,"name":"Centronuclear myopathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CNM"],"definition":"A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-595/","orphanet_url":"https://www.orpha.net/en/disease/detail/595","names":{"fr":{"name":"Myopathie centronucléaire","synonyms":["CNM","MCN"],"definition":"Groupe rare de maladies neuromusculaires génétiques caractérisées par les signes cliniques d'une myopathie congénitale et des noyaux apparaissant au centre sur une biopsie musculaire. Le tableau clinique et les autres caractéristiques histologiques varient en fonction du gène impliqué et du mode de transmission."},"de":{"name":"Myopathie, zentronukleäre","synonyms":["CNM","Myopathie, myotubuläre"],"definition":"Eine seltene Gruppe vererbter neuromuskulärer Erkrankungen, die durch klinische Merkmale einer kongenitalen Myopathie und zentral gelegene Kerne in der Muskelbiopsie gekennzeichnet sind. Das klinische Bild und andere histologische Merkmale variieren je nach betroffenem Gen und Vererbungsmodus."},"es":{"name":"Miopatía centronuclear","synonyms":["CNM"],"definition":"Es un grupo de trastornos neuromusculares hereditarios poco frecuente caracterizado por los hallazgos clínicos de una miopatía congénita y por núcleos situados en posición central en la biopsia muscular. Tanto el cuadro clínico como los otros hallazgos histológicos varían en función del gen implicado y del modo de herencia."},"it":{"name":"Miopatia centronucleare","synonyms":["CNM"],"definition":"Si tratta di un gruppo di malattie neuromuscolari ereditarie, caratterizzate dai segni clinici di una miopatia congenita con nuclei posizionati centralmente sulla biopsia muscolare. Il quadro clinico e le caratteristiche istologiche variano a seconda del gene interessato e della modalità di trasmissione."},"nl":{"name":"Centronucleaire myopathie","synonyms":["CNM"],"definition":"Een zeldzame groep van hereditaire neuromusculaire aandoeningen, gekarakteriseerd door klinische kenmerken van congenitale myopathie en centraal gesitueerde celkernen in spierbiopten. Klinisch beeld en andere histologische kenmerken variëren naargelang het betrokken gen en manier van overerving."},"pt":{"name":"Miopatia centronuclear","synonyms":["CNM"],"definition":"A miopatia centronuclear (CNM) é uma doença neuromuscular hereditária caracterizada por características clínicas de uma miopatia congénita e núcleos centrados na biópsia muscular."},"pl":{"name":"Miopatia centronuklearna","synonyms":["CNM"]},"cs":{"name":"Centronukleární myopatie","synonyms":["CNM"]},"uk":{"name":"Центронуклеарна міопатія","synonyms":["CNM"],"definition":"A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance."},"zh":{"name":"中央核性肌病","synonyms":["CNM"]},"tr":{"name":"Santronükleer miyopati","synonyms":["CNM"]}},"xrefs":[{"source":"ICD-11","code":"8C72.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"742097637"},{"source":"MONDO","code":"0018947","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175709","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"101","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[{"orpha":169189,"name":"Autosomal dominant centronuclear myopathy","type":"Disease"},{"orpha":169186,"name":"Autosomal recessive centronuclear myopathy","type":"Disease"},{"orpha":319160,"name":"Congenital myopathy with internal nuclei and atypical cores","type":"Disease"},{"orpha":604680,"name":"Symptomatic form of X-linked centronuclear myopathy in female carriers","type":"Disease"},{"orpha":596,"name":"X-linked centronuclear myopathy","type":"Disease"},{"orpha":456328,"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":null}