{"orpha":169186,"name":"Autosomal recessive centronuclear myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-CNM"],"definition":"A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169186/","orphanet_url":"https://www.orpha.net/en/disease/detail/169186","names":{"fr":{"name":"Myopathie centronucléaire autosomique récessive","synonyms":["AR-CNM","MCN-AR"],"definition":"Myopathie congénitale autosomique récessive rare qui se caractérise par une observation à la biopsie musculaire de nombreux noyaux situés au centre des fibres et par les caractéristiques cliniques d'une myopathie congénitale, à savoir, hypotonie faciale, anomalies oculaires (ptosis et ophtalmoplégie externe) et faiblesse musculaire de sévérité variable généralement proximale et éventuellement distale."},"de":{"name":"Myopathie, zentronukleäre, autosomal-rezessive","synonyms":["AR-CNM"],"definition":"Die autosomal-rezessiv vererbte Form der Zentronukleären Myopathie (AR-CNM) ist eine neuromuskuläre Krankheit und histopathologisch durch zahlreiche zentral gelegene Muskelfaser-Kerne gekennzeichnet. Sie ist durch die klinischen Merkmale einer kongenitalen Myopathie gekennzeichntet, einschließlich Fazialmuskelschwäche, Augenanomalien (Ptosis und externe Ophthalmoplegie) und vorherrschende proximale Muskelschwäche von unterschiedlichem Schweregrad mit möglicher distaler Beteiligung."},"es":{"name":"Miopatía centronuclear autosómica recesiva","synonyms":["AR-CNM"],"definition":"Es una miopatía congénita autosómica recesiva poco frecuente caracterizada por numerosos núcleos situados en posición central en la biopsia muscular y hallazgos clínicos de una miopatía congénita, incluyendo debilidad facial, anomalías oculares (ptosis y oftalmoplejía externa) y debilidad muscular de gravedad variable predominantemente proximal con una posible afectación distal."},"it":{"name":"Miopatia centronucleare autosomica recessiva","synonyms":["AR-CNM"],"definition":"La miopatia centronucleare autosomica recessiva (AR-CNM) è una malattia congenita autosomica recessiva rara, caratterizzata dalla presenza di numerosi nuclei posizionati centralmente sulle biopsie muscolari e da segni clinici tipici della miopatia congenita, che comprendono la debolezza facciale, le anomalie oculari (ptosi e oftalmoplegia esterna). La debolezza muscolare, di gravità variabile, interessa per lo più i muscoli prossimali, ma possono essere coinvolti anche i muscoli distali."},"nl":{"name":"Autosomaal recessieve centronucleaire myopathie","synonyms":["AR-CNM"],"definition":"Een zeldzame autosomaal recessieve congenitale myopathie, gekarakteriseerd door talrijke centraal gelokaliseerde nuclei in spierbiopten en klinische kenmerken van een congenitale myopathie, waaronder zwakte van aangezichtsspieren, ooganomalieën (ptose en externe oftalmoplegie) en overwegend proximale, maar mogelijk ook distale, spierzwakte met variabele gradaties van ernst."},"pt":{"name":"Miopatia centronuclear autossómica recessiva","synonyms":["AR-CNM"],"definition":"A miopatia centronuclear autossómica recessiva (AR-CNM) é uma doença neuromuscular hereditária definida por numerosos núcleos distribuídos centralmente na biopsia muscular e características clínicas de miopatia congénita."},"pl":{"name":"Autosomalna recesywna miopatia z ośrodkowo położonymi jądrami","synonyms":["AR-CNM"]},"cs":{"name":"Autozomálně recesivní forma centronukleární myopatie","synonyms":["AR-CNM"]},"uk":{"name":"Аутосомно-рецесивна центронуклеарна міопатія","synonyms":["AR-CNM"],"definition":"A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement."},"zh":{"name":"常染色体隐性遗传中央核性肌病","synonyms":["AR-CNM"],"definition":"常染色体隐性遗传性中心核肌病是一种罕见的先天性肌病，其特征为肌肉活检病理显示大量肌核居中位，其临床表现为面瘫，眼部症状（上睑下垂和外眼肌麻痹），四肢肌无力，以不同程度的近端肌无力为主，伴或不伴远端肌无力，以常染色体隐性方式遗传。"},"tr":{"name":"Otozomal resesif santronükleer miyopati","synonyms":["AR-CNM"]}},"xrefs":[{"source":"OMIM","code":"255200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615959","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1844602815"},{"source":"MONDO","code":"0015705","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410204","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12718","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":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","classifications":[156,181]},{"orpha":209053,"name":"Qualitative or quantitative defects of titin","classifications":[156]}],"children":[],"genes":[{"symbol":"BIN1","name":"bridging integrator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17676042[PMID]","hgnc":"1052","ensembl":"ENSG00000136717","omim":"601248","loci":["2q14.3"]},{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20839240[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]},{"symbol":"SPEG","name":"striated muscle enriched protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25087613[PMID]","hgnc":"16901","ensembl":"ENSG00000072195","omim":"615950","loci":["2q35"]},{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23975875[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["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":"2018-07-04","source":"20142620[PMID]_25087613[PMID]","terms":[{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Occasional (29-5%)","criteria":null}]}}