{"orpha":98896,"name":"Duchenne muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DMD","Severe dystrophinopathy, Duchenne type"],"definition":"A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98896/","orphanet_url":"https://www.orpha.net/en/disease/detail/98896","names":{"fr":{"name":"Dystrophie musculaire de Duchenne","synonyms":["DMD","Dystrophinopathie de Duchenne"],"definition":"Dystrophie musculaire rare d'origine génétique, caractérisée par une atrophie et une faiblesse musculaires progressives dues à une dégénérescence des muscles squelettiques, lisses et cardiaques."},"de":{"name":"Muskeldystrophie Typ Duchenne","synonyms":["DMD","Duchenne-Muskeldystrophie","Dystrophinopathie vom Typ Duchenne","Schwere Dystrophinopathie vom Typ Duchenne"],"definition":"Eine genetisch bedingte Muskeldystrophie, die durch rasch fortschreitende Muskelschwäche und Muskelschwund aufgrund der Degeneration von Skelett-, Herz- und glatter Muskulatur gekennzeichnet ist."},"es":{"name":"Distrofia muscular de Duchenne","synonyms":["DMD","Distrofinopatía grave tipo Duchenne"],"definition":"Es una distrofia muscular genética poco frecuente caracterizada por debilidad y atrofia muscular rápidamente progresivas debido a la degeneración del músculo esquelético, liso y cardíaco."},"it":{"name":"Distrofia muscolare di Duchenne","synonyms":["DMD","Distrofinopatia grave, tipo Duchenne"],"definition":"La distrofia muscolare di Duchenne (DMD) è una malattia muscolare rara, di origine genetica, caratterizzata da atrofia e debolezza muscolare a progressione rapida, causate dalla degenerazione dei muscoli scheletrici, della muscolatura liscia e del muscolo cardiaco."},"nl":{"name":"Spierdystrofie van Duchenne","synonyms":["DMD","Ernstige dystrofinopathie, Duchenne-type"],"definition":"Een zeldzame, genetische spierdystrofie, gekarakteriseerd door snel progressieve spierzwakte en -atrofie als gevolg van degeneratie van skeletspier, gladde spier en hartspier."},"pt":{"name":"Distrofia muscular, tipo Duchenne","definition":"A distrofia muscular de Duchenne (DMD) é uma doença neuromuscular caracterizada por fraqueza e perda de massa muscular rapidamente progressiva, devido a degeneração dos músculos esquelético, liso e cardíaco."},"pl":{"name":"Dystrofia mięśniowa Duchenne'a","synonyms":["Ciężka dystrofinopatia, typu Duchenne'a","DMD"]},"cs":{"name":"Duchennova muskulární dystrofie","synonyms":["DMD","Vážná dystrofinopatie, Duchennův typ"],"definition":"Duchennova muskulární dystrofie (DMD) je nervosvalové onemocnění projevující se rychle progredující svalovou slabostí a úbytkem svalové hmoty v důsledku degenerace kosterního, srdečního i hladkého svalstva."},"uk":{"name":"Мязова дистрофія Дюшена","synonyms":["DMD","Тяжка дистрофінопатія, тип Дюшена"],"definition":"A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle."},"zh":{"name":"杜氏肌营养不良症","synonyms":["重型杜氏肌营养不良"],"definition":"该病是一种罕见的遗传性肌肉营养不良症，其特征是由于骨骼肌、平滑肌和心肌的退化而迅速进展的肌肉无力和消瘦。"},"tr":{"name":"Duchenne kas distrofisi","synonyms":["DMD","Ağır distrofinopati, Duchenne tipi"]}},"xrefs":[{"source":"OMIM","code":"310200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C70.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1479561744"},{"source":"MONDO","code":"0010679","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":262,"name":"Duchenne and Becker muscular dystrophy","classifications":[146,156,181,233]},{"orpha":207085,"name":"Qualitative or quantitative defects of dystrophin","classifications":[156]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DMD","name":"dystrophin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2928","ensembl":"ENSG00000198947","omim":"300377","loci":["Xp21.2-p21.1"]},{"symbol":"LTBP4","name":"latent transforming growth factor beta binding protein 4","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23440719[PMID]","hgnc":"6717","ensembl":"ENSG00000090006","omim":"604710","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.9,"area":"Worldwide","status":"Validated","source":"32503598[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.14,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]_24780148[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"United States","status":"Validated","source":"12495984[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Netherlands","status":"Validated","source":"1733827[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.5,"area":"Canada","status":"Validated","source":"20080524[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"United Kingdom","status":"Validated","source":"23340516[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.59,"area":"Puerto rico","status":"Validated","source":"DOI:10.3233/JND-160147[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.2,"area":"Ireland","status":"Validated","source":"8845721[PMID]_24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Italy","status":"Validated","source":"10466417[PMID]_24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.26,"area":"Ireland","status":"Validated","source":"8845721[PMID]_24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Worldwide","status":"Validated","source":"32503598[PMID]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.66,"area":"Egypt","status":"Validated","source":"16210862[PMID]_24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.56,"area":"Japan","status":"Validated","source":"1745328[PMID]_24780148[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"South Africa","status":"Validated","source":"7825085[PMID]_24780148[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.75,"area":"Denmark","status":"Validated","source":"14678803[PMID]_24780148[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-06","source":"27524897[PMID]","terms":[{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null}]}}