{"orpha":262,"name":"Duchenne and Becker muscular dystrophy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Severe dystrophinopathy, Duchenne and Becker type"],"definition":"A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-262/","orphanet_url":"https://www.orpha.net/en/disease/detail/262","names":{"fr":{"name":"Dystrophie musculaire de Duchenne et Becker","synonyms":["Dystrophinopathie de Duchenne et Becker","Myopathie de Duchenne et Becker"],"definition":"Groupe de dystrophies musculaires rares, progressives, d'origine génétique, comprenant la dystrophie musculaire de Duchenne (DMD), la dystrophie musculaire de Becker (DMB) et une forme symptomatique chez les femmes porteuses. Le spectre de sévérité de ces maladies s'étend d'une atrophie et une faiblesse musculaires progressives dues à une dégénérescence des muscles squelettiques et cardiaques (DMD, DMB), à une faiblesse musculaire moins sévère ou une cardiomyopathie isolée, affectant les femmes porteuses."},"de":{"name":"Duchenne- und Becker-Muskeldystrophie","synonyms":["Schwere Dystrophinopathie vom Typ Duchenne und Becker"],"definition":"Eine Gruppe genetisch bedingter progressiver Muskeldystrophien, einschließlich der Duchenne-Muskeldystrophie (DMD), der Becker-Muskeldystrophie (BMD) und einer symptomatischen Form bei Frauen. Der Schweregrad der Erkrankungen reicht von progressiver Atrophie und Schwäche des Skeletts und des Herzmuskels (DMD, BMD) bis zu weniger schwerer Muskelschwäche oder isolierter Kardiomyopathie bei weiblichen Trägern."},"es":{"name":"Distrofia muscular de Duchenne y Becker","synonyms":["Distrofinopatía de Duchenne y Becker"],"definition":"Es un grupo de distrofias musculares progresivas, genéticas y poco frecuentes, que incluyen la distrofia muscular de Duchenne (DMD), la distrofia muscular de Becker (DMB) y una forma sintomática en mujeres portadoras. Las enfermedades representan un espectro de gravedad que va desde distrofia y debilidad progresiva del músculo esquelético y cardíaco (DMD, DMB) hasta una debilidad muscular menos grave o una miocardiopatía aislada que afecta a las mujeres portadoras."},"it":{"name":"Distrofia muscolare di Duchenne e Becker","synonyms":["Distrofinopatia di Duchenne e Becker"],"definition":"Si tratta di un gruppo di distrofie muscolari progressive genetiche rare, che comprende la distrofia muscolare di Duchenne (DMD), la distrofia muscolare di Becker (DMB) e una forma sintomatica nelle femmine portatrici. La gravità di queste malattie è variabile e comprende l'atrofia e la debolezza progressiva dei muscoli scheletrici e del muscolo cardiaco (DMD, DMB) e la debolezza muscolare più lieve o la cardiomiopatia isolata che colpiscono le femmine portatrici."},"nl":{"name":"Spierdystrofie van Duchenne en Becker","synonyms":["Ernstige dystrofinopathie, Duchenne en Becker-type"],"definition":"Een groep van zeldzame, genetische progressieve spierdystrofieën, waaronder spierdystrofie van Duchenne (DMD), spierdystrofie van Becker (BMD) en een symptomatische vorm bij vrouwelijke dragers. De aandoeningen vertegenwoordigen een spectrum van ernst, gaande van progressieve zwakte en atrofie van skelet- en hartspier (DMD, BMD) tot minder ernstige spierzwakte of geïsoleerde cardiomyopathie die vrouwelijke dragers treft."},"pt":{"name":"Distrofia muscular de Duchenne e Becker","synonyms":["Distrofinopatia"],"definition":"As distrofias musculares de Duchenne e Becker (DMD e BMD) são doenças neuromusculares caracterizadas por perda de massa muscular e fraqueza progressivas por degeneração do músculo esquelético, liso e cardíaco."},"pl":{"name":"Dystrofia mięśniowa Duchenne'a i Beckera","synonyms":["Ciężka dystrofinopatia typu Duchenne'a i Beckera"],"definition":"Grupa rzadkich, genetycznie uwarunkowywanych, postępujących dystrofii mięśniowych, w tym dystrofii mięśniowej Duchenne’a (DMD), dystrofii mięśniowej Beckera (BMD) i postaci objawowej u nosicielek. Choroby te charakteryzują się szerokim spektrum nasilenia objawów, od postępującego zaniku i osłabienia mięśni szkieletowych i zajęcia mięśnia sercowego (DMD, BMD) do mniej istotnego osłabienia mięśni lub izolowanej kardiomiopatii u kobiet nosicielek."},"cs":{"name":"Duchennova a Beckerova svalová dystrofie","synonyms":["Težká dystrofinopatie, Duchennův a Beckerův typ"]},"uk":{"name":"Мязова дистрофія Дюшена та Беккера","synonyms":["Тяжка дистрофінопатія, Дюшена та Беккера типу"],"definition":"A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females."},"zh":{"name":"杜氏/贝氏肌营养不良","synonyms":["重型抗肌萎缩蛋白病，杜氏/贝氏型"]},"tr":{"name":"Duchenne ve Becker kas distrofisi","synonyms":["Ağır distrofinopati, Duchenne ve Becker tipi"]}},"xrefs":[{"source":"MONDO","code":"16899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3542021","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":217610,"name":"Neuromuscular disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[{"orpha":98895,"name":"Becker muscular dystrophy","type":"Disease"},{"orpha":98896,"name":"Duchenne muscular dystrophy","type":"Disease"},{"orpha":206546,"name":"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"United States","status":"Validated","source":"25687144[PMID]"}],"phenotypes":null}