{"orpha":169189,"name":"Autosomal dominant centronuclear myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AD-CNM"],"definition":"A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169189/","orphanet_url":"https://www.orpha.net/en/disease/detail/169189","names":{"fr":{"name":"Myopathie centronucléaire autosomique dominante","synonyms":["AD-CNM","MCN-AD"],"definition":"Myopathie congénitale autosomique dominante 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, faiblesse musculaire distale/proximale, déformations de la cage thoracique (parfois associées à une insuffisance respiratoire), ptosis, ophtalmoparésie et faiblesse des muscles d'expression faciale, ainsi que des traits dysmorphiques."},"de":{"name":"Myopathie, zentronukleäre, autosomal-dominante","synonyms":["AD-CNM"],"definition":"Eine autosomal-dominante kongenitale Myopathie, die durch zahlreiche zentral gelegene Kerne in der Muskelbiopsie und klinische Merkmale einer kongenitalen Myopathie gekennzeichnet ist (Hypotonie, distale/proximale Muskelschwäche, Fehlbildungen des Brustkorbs (manchmal in Verbindung mit respiratorischer Insuffizienz), Ptosis, Ophthalmoparese und Schwäche der Gesichtsmuskeln mit dysmorphen Gesichtszügen."},"es":{"name":"Miopatía centronuclear autosómica dominante","synonyms":["AD-CNM"],"definition":"Es una miopatía congénita autosómica dominante poco frecuente caracterizada por numerosos núcleos centrales en la biopsia muscular y características clínicas de miopatía congénita (hipotonía, debilidad muscular distal/proximal, deformidades de la caja torácica (a veces asociadas con insuficiencia respiratoria), ptosis, oftalmoparesia y debilidad de los músculos involucrados en la expresión facial con rasgos faciales dismórficos."},"it":{"name":"Miopatia centronucleare autosomica dominante","synonyms":["AD-CNM"],"definition":"Si tratta di una miopatia congenita rara autosomica dominante, caratterizzata dalla presenza di numerosi nuclei posizionati centralmente sulle biopsie muscolari e dai segni clinici caratteristici della miopatia congenita, che comprendono l'ipotonia, la debolezza dei muscoli distali/prossimali, le deformità della gabbia toracica (talvolta associate a insufficienza respiratoria), la ptosi, l'oftalmoparesi, e la debolezza dei muscoli coinvolti nell'espressione facciale. Si associa a dismorfismi facciali."},"nl":{"name":"Autosomaal dominante centronucleaire myopathie","synonyms":["AD-CNM"],"definition":"Een zeldzame, autosomaal dominante congenitale myopathie, gekarakteriseerd door talrijke centraal gesitueerde nuclei in spierbiopten en klinische kenmerken van een congenitale myopathie (hypotonie, distale/proximale spierzwakte, misvormingen van ribbenkast (soms geassocieerd met respiratoire insufficiëntie), ptose, oftalmoparese, en zwakte van gelaatsspieren met dysmorfe gelaatskenmerken."},"pt":{"name":"Miopatia centronuclear autossómica dominante","synonyms":["AD-CNM"]},"pl":{"name":"Autosomalna dominująca miopatia z ośrodkowo położonymi jądrami","synonyms":["AD-CNM"]},"cs":{"name":"Autozomálně dominantní forma centronukleární myopatie","synonyms":["AD-CNM"]},"uk":{"name":"Аутосомно-домінантна центронуклеарна міопатія","synonyms":["AD-CNM"],"definition":"A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features."},"zh":{"name":"常染色体显性遗传中央核性肌病","synonyms":["AD-CNM"],"definition":"常染色体显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，其主要临床特征为先天性肌病（肌张力低下、远端和/或近端肌无力、胸腔畸形（有时与呼吸功能不全有关）、上睑下垂、面瘫伴面部畸形，以常染色体显性方式遗传。"},"tr":{"name":"Otozomal dominant santronükleer miyopati","synonyms":["AD-CNM"]}},"xrefs":[{"source":"OMIM","code":"160150","qualifier":"E","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":"629192160"},{"source":"MONDO","code":"0008048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834558","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12719","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]}],"children":[],"genes":[{"symbol":"MTMR14","name":"myotubularin related protein 14","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17008356[PMID]","hgnc":"26190","ensembl":"ENSG00000163719","omim":"611089","loci":["3p25.3"]},{"symbol":"MYF6","name":"myogenic factor 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7566","ensembl":"ENSG00000111046","omim":"159991","loci":["12q21.31"]},{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]},{"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":"25260562[PMID]","hgnc":"1052","ensembl":"ENSG00000136717","omim":"601248","loci":["2q14.3"]},{"symbol":"DNM2","name":"dynamin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16227997[PMID]","hgnc":"2974","ensembl":"ENSG00000079805","omim":"602378","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","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":"2018-07-18","source":"18817572[PMID]_16227997[PMID]","terms":[{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001436","label":"Abnormality of the foot musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004488","label":"Macrocephaly at birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010546","label":"Muscle fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","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:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Very rare (<4-1%)","criteria":null}]}}