{"orpha":597,"name":"Central core disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597/","orphanet_url":"https://www.orpha.net/en/disease/detail/597","names":{"fr":{"name":"Myopathie congénitale à \"central cores\"","synonyms":["Myopathie congénitale à cores centraux"],"definition":"La myopathie congénitale à « central cores » (ou CCD pour central core disease) est une affection neuromusculaire héréditaire caractérisée par des lésions rondes au centre de la fibre musculaire visibles sur la biopsie musculaire et par les manifestations cliniques d'une myopathie congénitale."},"de":{"name":"Central-Core-Myopathie","synonyms":["Central-Core-Krankheit","Zentralfibrillenmyopathie"],"definition":"Die central core disease (CCD) ist eine erbliche neuromuskuläre Krankheit mit Zentralfibrillen (central cores) in der Muskelbiopsie und dem klinischen Bild einer kongenitalen Myopathie."},"es":{"name":"Enfermedad central core","synonyms":["Miopatía congénita central core"],"definition":"La enfermedad central core o de cuerpos centrales (CCD; por sus siglas en inglés) es un trastorno neuromuscular hereditario caracterizado por la presencia de cuerpos centrales en biopsias musculares y los signos clínicos propios de una miopatía congénita."},"it":{"name":"Miopatia congenita central core","definition":"La miopatia congenita 'central core' (CCD) è una malattia neuromuscolare ereditaria, caratterizzata dalla presenza di inclusi centrocellulari sulle biopsie muscolari e da segni clinici di miopatia congenita."},"nl":{"name":"Central core-ziekte","definition":"Central core myopathie (CCD) is een erfelijke neuromusculaire stoornis die gekarakteriseerd wordt door centrale ophelderingen (lege plek in een spiercel, of 'central core') en klinische kenmerken van een congenitale myopathie."},"pt":{"name":"Doença do núcleo central"},"pl":{"name":"Choroba central core","definition":"Choroba „central core” to dziedziczne zaburzenie nerwowo-mięśniowe charakteryzujące się obecnością wtrętów centralnych w biopsji mięśnia, a klinicznie objawami wrodzonej miopatii."},"cs":{"name":"Centronukleární onemocnění"},"uk":{"name":"Захворювання центрального ядра","definition":"Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy."},"zh":{"name":"中央轴空病"},"tr":{"name":"Santral kor hastalığı"}},"xrefs":[{"source":"OMIM","code":"117000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C72.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2065822840"},{"source":"MONDO","code":"0007294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751951","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6014","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057620","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":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301565[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17504518[PMID]_30155738[PMID]_16621918[PMID]_4265427[PMID]","terms":[{"hpo":"HP:0030230","label":"Central core regions in muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001989","label":"Fetal akinesia sequence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040191","label":"Rectus femoris muscle atrophy","frequency":"Excluded (0%)","criteria":null}]}}