{"orpha":596,"name":"X-linked centronuclear myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked myotubular myopathy","XLCNM","XLMTM"],"definition":"A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-596/","orphanet_url":"https://www.orpha.net/en/disease/detail/596","names":{"fr":{"name":"Myopathie centronucléaire liée à l'X","synonyms":["Myopathie congénitale myotubulaire liée à l'X","XLCNM","XLMTM"],"definition":"Myopathie congénitale rare liée à l'X, caractérisée par la présence de nombreux noyaux à disposition centrale sur la biopsie musculaire, se manifestant dès la naissance par une importante faiblesse musculaire, une hypotonie et une détresse respiratoire."},"de":{"name":"Myopathie, zentronukleäre, X-chromosomale","synonyms":["Myopathie, myotubuläre, X-chromosomale","XLCNM","XLMTM"],"definition":"Eine kongenitale X-chromosomale Myopathie, die durch zahlreiche zentral gelegene Kerne in der Muskelbiopsie gekennzeichnet ist und bei der Geburt mit ausgeprägter Schwäche, Hypotonie und Ateminsuffizienz einhergeht."},"es":{"name":"Miopatía centronuclear ligada al cromosoma X","synonyms":["XLCNM","XLMTM","Miopatía miotubular ligada al cromosoma X"],"definition":"Es una miopatía congénita poco frecuente ligada al cromosoma X caracterizada por numerosos núcleos en posición central en la biopsia muscular y está presente al nacimiento con una marcada debilidad, hipotonía e insuficiencia respiratoria."},"it":{"name":"Miopatia centronucleare legata all'X","synonyms":["Miopatia miotubulare","XLCNM","XLMTM"],"definition":"Si tratta di una miopatia congenita rara legata all'X, caratterizzata dalla presenza di numerosi nuclei situati centralmente sulle biopsie muscolari. La malattia esordisce alla nascita con debolezza marcata, ipotonia e insufficienza respiratoria."},"nl":{"name":"X-gebonden centronucleaire myopathie","synonyms":["X-gebonden myotubulaire myopathie","XLCNM","XLMTM"],"definition":"Een zeldzame, X-gebonden, congenitale myopathie, gekarakteriseerd door talrijke centraal gesitueerde nuclei bij spierbiopsie en met presentatie bij de geboorte met aanzienlijke zwakte, hypotonie en respiratoir falen."},"pt":{"name":"Miopatia centronuclear ligada ao X","synonyms":["Miopatia miotubular ligada ao X","XLCNM","XLMTM"],"definition":"A miopatia miotubular ligada ao X (XLMTM) é uma doença neuromuscular hereditária definida por numerosos núcleos distribuídos centralmente na biopsia muscular e características clínicas de uma miopatia congénita."},"pl":{"name":"Miopatia z centralnie ułożonymi jądrami sprzężona z płcią","synonyms":["XLCNM","XLMTM","Miopatia miotubularna sprzężona z płcią"]},"cs":{"name":"X-vázaná forma centronukleární myopatie","synonyms":["Myotubulární myopatie","XLCNM","XLMTM"]},"uk":{"name":"Х-зчеплена центронуклеарна міопатія","synonyms":["XLCNM","Х-зчеплена міотубулярна міопатія","XLMTM"],"definition":"A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure."},"zh":{"name":"X连锁中央核性肌病","synonyms":["X连锁肌小管肌病"]},"tr":{"name":"X'e bağlı santronükleer miyopati","synonyms":["XLCNM","XLMTM","X'e bağlı miyotübüler miyopati"]}},"xrefs":[{"source":"OMIM","code":"310400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C72.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1993913190"},{"source":"MONDO","code":"0010683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410203","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11925","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":595,"name":"Centronuclear myopathy","classifications":[156,181]},{"orpha":207110,"name":"Qualitative or quantitative defects of myotubularin","classifications":[156]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MTM1","name":"myotubularin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301605[PMID]","hgnc":"7448","ensembl":"ENSG00000171100","omim":"300415","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"France","status":"Validated","source":"18817572[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-18","source":"31484632[PMID]_31578728[PMID]_26823526[PMID]","terms":[{"hpo":"HP:0030917","label":"Low APGAR score","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003755","label":"Type 1 fibers relatively smaller than type 2 fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031238","label":"Necklace skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null}]}}