{"orpha":98895,"name":"Becker muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BMD","Becker dystrophinopathy"],"definition":"A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98895/","orphanet_url":"https://www.orpha.net/en/disease/detail/98895","names":{"fr":{"name":"Dystrophie musculaire de Becker","synonyms":["BMD","DMB","Dystrophinopathie de Becker"],"definition":"Une 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 Becker","synonyms":["Dystrophinopathie vom Typ Becker"],"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 Becker","synonyms":["Distrofinopatía de Becker"],"definition":"Es una distrofia muscular genética poco frecuente caracterizada por atrofia muscular progresiva y debilidad debido a la degeneración del músculo esquelético, liso y cardíaco."},"it":{"name":"Distrofia muscolare di Becker","synonyms":["Distrofinopatia di Becker"],"definition":"La distrofia muscolare di Becker (DMB) è una malattia muscolare rara, di origine genetica, caratterizzata da atrofia e debolezza muscolare progressive, causate dalla degenerazione dei muscoli scheletrici, della muscolatura liscia e del muscolo cardiaco."},"nl":{"name":"Spierdystrofie van Becker","synonyms":["BMD","Dystrofinopathie, Becker-type"],"definition":"Een zeldzame, genetische spierdystrofie, gekarakteriseerd door progressieve atrofie en zwakte van spier als gevolg van degeneratie van skeletspier, gladde spier en hartspier."},"pt":{"name":"Distrofia muscular, tipo Becker","definition":"A distrofia muscular de Becker é uma doença neuromuscular caracterizada por progressiva perda de massa muscular e fraqueza, por degeneração do músculo esquelético, liso e cardíaco."},"pl":{"name":"Dystrofia mięśniowa Beckera","synonyms":["BMD","Dystrofinopatia Beckera"]},"cs":{"name":"Beckerova svalová dystrofie","synonyms":["BMD","Beckerova dystrofinopatie"]},"uk":{"name":"Мязова дистрофія Беккера","synonyms":["Дистрофінопатія Беккера","BMD"],"definition":"A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle."},"zh":{"name":"贝克肌营养不良症","synonyms":["贝克肌营养不良"],"definition":"该病是一种罕见的遗传性肌营养不良症，其特征是由于骨骼肌、平滑肌和心肌的退化而导致进行性肌肉萎缩和无力。"},"tr":{"name":"Becker kas distrofisi","synonyms":["BMD","Becker distrofinopatisi"]}},"xrefs":[{"source":"OMIM","code":"159050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300376","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C70.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"690532643"},{"source":"MONDO","code":"0010311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917713","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5900","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059117","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":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"United Kingdom","status":"Validated","source":"1673177[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.64,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]_24780148[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"United States","status":"Validated","source":"12495984[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"United States","status":"Not yet validated","source":"emedicine[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.42,"area":"Puerto rico","status":"Validated","source":"DOI:10.3233/JND-160147[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.53,"area":"Worldwide","status":"Not yet validated","source":"24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.47,"area":"Italy","status":"Validated","source":"10466417[PMID]_24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.94,"area":"Egypt","status":"Validated","source":"16210862[PMID]_24780148[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.91,"area":"Japan","status":"Validated","source":"1745328[PMID]_24780148[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"South Africa","status":"Validated","source":"7825085[PMID]_24780148[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.59,"area":"Ireland","status":"Validated","source":"8845721[PMID]_24780148[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-21","source":"19396825[PMID]_23667215[PMID]","terms":[{"hpo":"HP:0012086","label":"Abnormal urinary color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","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:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null}]}}