{"orpha":319160,"name":"Congenital myopathy with internal nuclei and atypical cores","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CNM4","Centronuclear myopathy type 4"],"definition":"Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319160/","orphanet_url":"https://www.orpha.net/en/disease/detail/319160","names":{"fr":{"name":"Myopathie congénitale avec noyaux centrés et cores atypiques","synonyms":["CNM4","Myopathie centronucléaire de type 4"],"definition":"Une maladie génétique rare affectant les muscles squelettiques, caractérisée par une hypotonie néonatale, une faiblesse musculaire plus distale que proximale, une intolérance à l'effort progressive avec des myalgies proéminentes, et une atteinte motrice généralisée légère à modérée épargnant l'ambulation. Les muscles faciaux, extra-oculaires, cardiaques et respiratoires ne sont pas affectés. La plupart des patients présente aussi une légère atteinte cognitive."},"de":{"name":"Kongenitale Myopathie mit internen Nuclei und atypischen Kernen","synonyms":["CNM4","Myopathie, zentronukleäre, Typ 4"],"definition":"Die kongenitale Myopathie mit internen Nuclei und atypischen Kernen ist eine seltene genetische Skelettmuskelerkrankung. Sie ist gekennzeichnet durch neonatale Hypotonie, distale (vorwiegend) und proximale Muskelschwäche, progressive Belastungsintoleranz mit prominenten Myalgien und leichte bis mäßige motorische Gesamtbeeinträchtigung mit erhaltener Gehfähigkeit. Die Gesichtsmuskulatur sowie extraokuläre, kardiale und respiratorische Muskeln zeigen keine Beeinträchtigung. Bei den meisten Patienten wird zusätzlich eine leichte kognitive Beeinträchtigung festgestellt."},"es":{"name":"Miopatía congénita con núcleos internos y cores atípicos","synonyms":["CNM4","Miopatía centronuclear tipo 4"],"definition":"La miopatía congénita con núcleos internos y cores atípicos es una enfermedad genética poco frecuente del músculo esquelético, que se caracteriza por hipotonía neonatal, debilidad muscular distal más que proximal, intolerancia progresiva al ejercicio con mialgias importantes y afectación motora general de leve a moderada con deambulación preservada. Los músculos faciales, extraoculares, cardíacos y respiratorios no se ven afectados. También se observa, en la mayoría de los afectados, un deterioro cognitivo leve."},"it":{"name":"Miopatia congenita con nuclei interni e core atipici","synonyms":["CNM4","Miopatia centronucleare, tipo 4"],"definition":"La miopatia congenita con nuclei interni e 'core' atipici è una malattia muscolo-scheletrica genetica rara, caratterizzata da ipotonia neonatale, debolezza dei muscoli distali (sono meno interessati i muscoli prossimali), intolleranza progressiva all'esercizio fisico con mialgia marcata e deficit motori generalizzati lievi o moderati; la deambulazione è conservata. Non sono interessati i muscoli extraoculari, il cuore, i muscoli respiratori e del viso. La maggioranza dei pazienti presenta un lieve deficit cognitivo."},"nl":{"name":"Congenitale myopathie met interne nuclei en atypische kernen","synonyms":["CNM4","Centronucleaire myopathie type 4"],"definition":"Congenitale myopathie met interne nucleï en atypische kernen is een zeldzame, genetische ziekte van de skeletspieren die gekarakteriseerd wordt door neonatale hypotonie, spierzwakte (distaal meer dan proximaal), progressieve inspanningsintolerantie met uitgesproken myalgieën, en milde tot matige algemene motorische beperkingen met behoud van stapvermogen. Gelaats-, extraoculaire, cardiale, en ademhalingsspieren worden niet getroffen. Milde cognitieve beperking wordt ook waargenomen bij de meeste patiënten."},"pt":{"name":"Miopatia congénita com núcleos internos e centros atípicos","synonyms":["CNM4","Miopatia centronuclear tipo 4"]},"pl":{"name":"Miopatia wrodzona z ośrodkowo ułożonymi jądrami i atypowymi jądrami","synonyms":["CNM4","Miopatia z ośrodkowo ułożonymi jądrami typu 4"]},"cs":{"name":"Centronukleární myopatie, typ 4","synonyms":["CNM4"]},"uk":{"name":"Вроджена міопатія з внутрішніми ядрами та атиповими ядрами","synonyms":["Центронуклеарна міопатія типу 4","CNM4"],"definition":"Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients."},"zh":{"name":"先天性中央核和非典型核肌病","synonyms":["中心核肌病4型"],"definition":"伴有内部肌核与非典型中轴的先天性肌病是一种罕见的遗传性骨骼肌疾病，其特征为新生儿肌张力减退，远端肌肉比近端肌肉无力，进行性运动不耐受伴显著的肌痛，持续行走时轻至中度的整体运动障碍。面部肌肉、眼外肌、心肌和呼吸肌不受影响。大多数患者存在轻度认知障碍。"},"tr":{"name":"İnternal çekirdekler ile atipik merkezli doğumsal miyopati","synonyms":["CNM4","Sentronükleer miyopati tip 4"]}},"xrefs":[{"source":"OMIM","code":"614807","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707232","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":172976,"name":"Congenital myopathy with cores","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CCDC78","name":"coiled-coil domain containing 78","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22818856[PMID]","hgnc":"14153","ensembl":"ENSG00000162004","omim":"614666","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22818856[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22818856[PMID]"}],"phenotypes":null}