{"orpha":206546,"name":"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206546/","orphanet_url":"https://www.orpha.net/en/disease/detail/206546","names":{"fr":{"name":"Forme symptomatique de la dystrophie musculaire de Duchenne et Becker de la femme porteuse","definition":"Dystrophie musculaire rare d'origine génétique de la femme transmettrice caractérisée une faiblesse musculaire de degrés variables due à une myopathie squelettique progressive, parfois associée à une cardiomyopathie dilatée ou à une dilatation du ventricule gauche."},"de":{"name":"Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen","definition":"Eine genetisch bedingte Muskeldystrophie, die weibliche Trägerinnen betrifft und durch einen unterschiedlichen Grad an Muskelschwäche aufgrund einer fortschreitenden Skelettmyopathie gekennzeichnet ist, manchmal in Verbindung mit einer dilatativen Kardiomyopathie oder einer Erweiterung der linken Herzkammer."},"es":{"name":"Forma sintomática de la distrofia muscular de Duchenne y Becker en mujeres portadoras","definition":"Es una distrofia muscular genética poco frecuente que afecta a mujeres portadoras y que se caracteriza por grados variables de debilidad muscular debido a miopatía esquelética progresiva, asociada ocasionalmente a miocardiopatía dilatada o dilatación del ventrículo izquierdo."},"it":{"name":"Forma sintomatica della distrofia muscolare di Duchenne e di Becker nelle femmine portatrici","definition":"Si tratta di distrofie muscolari genetiche rare che colpiscono le femmine portatrici, caratterizzate da debolezza muscolare di grado variabile secondaria ad una miopatia progressiva dei muscoli scheletrici, talvolta associata a cardiomiopatia dilatativa o alla dilatazione del ventricolo sinistro."},"nl":{"name":"Symptomatische vorm van spierdystrofie van Duchenne en Becker bij vrouwelijke dragers","definition":"Een zeldzame, genetische spierdystrofie die vrouwelijke dragers treft, gekarakteriseerd door variabele gradaties van spierzwakte door progressieve myopathie van skelet, soms geassocieerd met gedilateerde cardiomyopathie of dilatatie van linkerventrikel."},"pt":{"name":"Forma sintomática de distrofia muscular de Duchenne e Becker em portadoras","definition":"A forma sintomática da distrofia muscular de Duchenne e Becker (DMD e BMD: ver estes termos) nas mulheres portadoras é caracterizada por graus variáveis de fraqueza muscular devido a miopatia esquelética progressiva, por vezes associada a cardiomiopatia dilatada ou dilatação do ventrículo esquerdo."},"pl":{"name":"Objawowa postać dystrofii mięśniowej Duchenne'a i Beckera u kobiet nosicielek"},"cs":{"name":"Symptomatická forma Duchenovy a Beckerovy svalové dystrofie u žen přenašeček"},"uk":{"name":"Симптоматична форма мязової дистрофії Дюшена і Беккера у жінок-носіїв","definition":"A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation."},"zh":{"name":"女性Duchenne型和Becker型肌营养不良症携带者症候","definition":"杜氏和贝克型症状性女性肌营养不良是一种罕见的遗传性肌营养不良，见于女性，其主要临床表现为进行性骨骼肌病导致不同程度的肌无力，部分患者会出现扩张性心肌病或左心室扩张。"},"tr":{"name":"Kadın taşıyıcılarda Duchenne ve Becker kas distrofisi semptomatik formu"}},"xrefs":[{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"853926582"},{"source":"ICD-11","code":"8C70.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1728612144"},{"source":"MONDO","code":"0016097","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707359","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]}],"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"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"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":"2021-12-02","source":"32022138 [PMID]_20301298[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001435","label":"Abnormality of the shoulder girdle musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030097","label":"Absent muscle dystrophin expression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003409","label":"Distal sensory impairment of all modalities","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Excluded (0%)","criteria":null}]}}