{"orpha":598,"name":"Multiminicore myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MmD","Multiminicore disease"],"definition":"A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-598/","orphanet_url":"https://www.orpha.net/en/disease/detail/598","names":{"fr":{"name":"Myopathie à multi-minicores","synonyms":["Maladie à multi-minicores","MmD"],"definition":"La myopathie à multi-minicores (ou Multi-minicore Disease, MmD) est une maladie neuromusculaire héréditaire caractérisée par la présence de multiples cores (petits foyers de désorganisation sarcomérique) visibles sur la biopsie musculaire et un tableau clinique de myopathie congénitale."},"de":{"name":"Multiminicore-Myopathie","synonyms":["Multiminicore-Krankheit (MmD)"],"definition":"Die Multi-Minicore-Krankheit (MmD) ist eine erbliche neuromuskuläre Erkkrankung mit multiplen Cores in der Muskelbiopsie und den klinischen Symptomen einer kongenitalen Myopathie."},"es":{"name":"Miopatía multiminicore","definition":"Es un trastorno neuromuscular hereditario poco frecuente caracterizado por la presencia de múltiples 'cores' en biopsia muscular y hallazgos clínicos de una miopatía congénita."},"it":{"name":"Miopatia multiminicore"},"nl":{"name":"Multiminicore-myopathie","synonyms":["MmD","Multiminicore-ziekte"],"definition":"Een zeldzame, erfelijke, neuromusculaire stoornis, gekarakteriseerd door aanwezigheid van meerdere ophelderingen ('cores') bij spierbiopsie en klinische kenmerken van een congenitale myopathie."},"pt":{"name":"Miopatia multiminicore","synonyms":["Doença multiminicore"]},"pl":{"name":"Miopatia typu multiminicore","synonyms":["Choroba multiminicore","MmD"]},"cs":{"name":"Multi-mini core myopatie","synonyms":["MmD","Multi-mini core disease","Multi-mini jádrové onemocnění"]},"uk":{"name":"Мультимініядерна міопатія","synonyms":["MmD","Багатомініядерна хвороба"],"definition":"A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy."},"zh":{"name":"多小核肌病","synonyms":["多微小轴空病"]},"tr":{"name":"Multiminikor miyopati","synonyms":["MmD","Multiminicore hastalığı"]}},"xrefs":[{"source":"OMIM","code":"117000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"255320","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602771","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"880281117"},{"source":"MONDO","code":"0018948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270962","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":172976,"name":"Congenital myopathy with cores","classifications":[156,181]},{"orpha":209193,"name":"Qualitative or quantitative defects of selenoprotein N1","classifications":[156]},{"orpha":466658,"name":"Rare disease with malignant hyperthermia","classifications":[181]}],"children":[{"orpha":178148,"name":"Antenatal multiminicore disease with arthrogryposis multiplex congenita","type":"Clinical subtype"},{"orpha":324604,"name":"Classic multiminicore myopathy","type":"Clinical subtype"},{"orpha":98905,"name":"Congenital multicore myopathy with external ophthalmoplegia","type":"Clinical subtype"},{"orpha":178145,"name":"Moderate multiminicore disease with hand involvement","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24105469[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"],"via":{"orpha":324604,"name":"Classic multiminicore myopathy"}},{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22784669[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"],"via":{"orpha":324604,"name":"Classic multiminicore myopathy"}},{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301467[PMID]_12719381[PMID]_16380615[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"],"via":{"orpha":98905,"name":"Congenital multicore myopathy with external ophthalmoplegia"}},{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301467[PMID]_12112081[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"],"via":{"orpha":178145,"name":"Moderate multiminicore disease with hand involvement"}},{"symbol":"SELENON","name":"selenoprotein N","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12192640[PMID]","hgnc":"15999","ensembl":"ENSG00000162430","omim":"606210","loci":["1p36.11"],"via":{"orpha":324604,"name":"Classic multiminicore myopathy"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-04","source":"17631035[PMID]_22009146[PMID]","terms":[{"hpo":"HP:0003789","label":"Minicore myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Occasional (29-5%)","criteria":null}]}}