{"orpha":610,"name":"Bethlem muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bethlem myopathy","LGMD D5 collagen 6-related dystrophy","LGMD D5 collagen VI-related dystrophy","LGMD R22 collagen 6-related dystrophy","LGMD R22 collagen VI-related dystrophy","Mild form of COL6-related dystrophy","Mild form of collagen VI-related dystrophy"],"definition":"A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-610/","orphanet_url":"https://www.orpha.net/en/disease/detail/610","names":{"fr":{"name":"Dystrophie musculaire de Bethlem","synonyms":["Dystrophie musculaire liée au collagène 6, forme atténuée","Dystrophie musculaire liée au collagène VI, forme atténuée","LGMD liée au collagène VI D5","LGMD liée au collagène VI R22","Myopathie de Bethlem"],"definition":"Forme de dystrophie musculaire congénitale caractérisée par l'apparition, congénitale ou pendant l'enfance, d'une faiblesse musculaire proximale progressive, de contractures articulaires et d'une éventuelle insuffisance respiratoire à l'âge adulte."},"de":{"name":"Bethlem-Muskeldystrophie","synonyms":["Bethlem-Myopathie","LGMD D5 Kollagen 6-assoziierte Dystrophie","LGMD D5 Kollagen VI-bedingte Dystrophie","LGMD R22 Kollagen 6-assoziierte Dystrophie","LGMD R22 Kollagen VI-bedingte Dystrophie","Milde Form der COL6-assoziierten Dystrophie","Milde Form der Kollagen VI-assoziierten Dystrophie"],"definition":"Eine Form der kongenitalen Muskeldystrophie, die durch eine angeborene, im Kindesalter beginnende, fortschreitende proximale Muskelschwäche, Gelenkkontrakturen und potenzielle respiratorische Insuffizienz im Erwachsenenalter gekennzeichnet ist."},"es":{"name":"Distrofia muscular de Bethlem","synonyms":["Distrofia LGMD D5 asociada al colágeno 6","Distrofia LGMD D5 asociada al colágeno VI","Distrofia LGMD R22 asociada al colágeno 6","Distrofia LGMD R22 asociada al colágeno VI","Forma leve de la distrofia asociada a COL6","Forma leve de la distrofia asociada al colágeno VI","Miopatía de Bethlem"],"definition":"Es una forma de distrofia muscular congénita caracterizada por un inicio congénito o en la infancia de debilidad muscular proximal progresiva, contracturas articulares y posible insuficiencia respiratoria en la edad adulta."},"it":{"name":"Distrofia muscolare di Bethlem","synonyms":["Forma lieve della distrofia correlata a COL6","Forma lieve della distrofia correlata al collagene VI","LGMD correlata al collagene 6 D5","LGMD correlata al collagene 6 R22","LGMD correlata al collageneVI D5","LGMD correlata al collageneVI R22","Miopatia di Bethlem"]},"nl":{"name":"Spierdystrofie van Bethlem","synonyms":["Bethlem-myopathie","LGMD D5 collageen 6-gerelateerde dystrofie","LGMD D5 collageen VI-gerelateerde dystrofie","LGMD R22 collageen 6-gerelateerde dystrofie","LGMD R22 collageen VI-gerelateerde dystrofie","Milde vorm van COL6-gerelateerde dystrofie","Milde vorm van collageen VI-gerelateerde dystrofie"],"definition":"Een zeldzame vorm van congenitale spierdystrofie, gekenmerkt door congenitale tot in de kindertijd optredende progressieve proximale spierzwakte, gewrichtscontracturen, en mogelijk respiratoire insufficiëntie in de volwassenheid."},"pt":{"name":"Distrofia muscular Bethlem","synonyms":["Distrofia COL6-relacionada forma moderada","Distrofia LGMD D5 colagénio 6-relacionada","Distrofia LGMD D5 colagénio VI-relacionada","Distrofia LGMD R22 colagénio 6-relacionada","Distrofia LGMD R22 colagénio VI-relacionada","Distrofia colagénio VI-relacionada forma moderada","Miopatia Bethlem"],"definition":"Forma de distrofia muscular congénita caracterizada por fraqueza muscular proximal progressiva, contraturas articulares e potencial insuficiência respiratória na idade adulta, de início congénito até à infância."},"pl":{"name":"Miopatia Bethlema","synonyms":["Łagodna miopatia autosomalna dominująca"],"definition":"Postać wrodzonej dystrofii mięśniowej charakteryzująca się wrodzonym, postępującym osłabieniem mięśni proksymalnych o początku w wieku dziecięcym, przykurczami stawowymi oraz niewydolnością oddechową, która może wystąpić w wieku dorosłym."},"cs":{"name":"Bethlemova myopatie","synonyms":["Benigní autozomálně dominantní myopatie"]},"uk":{"name":"Мязова дистрофія Бетлема","synonyms":["Міопатія Бетлема","LGMD D5 колаген 6-асоційована дистрофія","LGMD D5 колагенова дистрофія, повязана з колагеном VI","LGMD R22 колагенова дистрофія, повязана з колагеном 6","LGMD R22 колагенова дистрофія, повязана з колагеном VI","Легка форма COL6-залежної дистрофії","Легка форма колагенової дистрофії, повязаної з колагеном VI"],"definition":"A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood."},"zh":{"name":"Bethlem肌病","synonyms":["良性常染色体显性肌病"]},"tr":{"name":"Bethlem miyopatisi","synonyms":["Selim otozomal dominant miyopati"]}},"xrefs":[{"source":"OMIM","code":"158810","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616471","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620725","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620726","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"72734329"},{"source":"MONDO","code":"0008029","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834674","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":646098,"name":"Collagen VI-related congenital muscular dystrophy","classifications":[156,181]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COL12A1","name":"collagen type XII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24334769[PMID]_24334604[PMID]","hgnc":"2188","ensembl":"ENSG00000111799","omim":"120320","loci":["6q13-q14.1"]},{"symbol":"COL6A1","name":"collagen type VI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301676[PMID]","hgnc":"2211","ensembl":"ENSG00000142156","omim":"120220","loci":["21q22.3"]},{"symbol":"COL6A2","name":"collagen type VI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301676[PMID]","hgnc":"2212","ensembl":"ENSG00000142173","omim":"120240","loci":["21q22.3"]},{"symbol":"COL6A3","name":"collagen type VI alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301676[PMID]","hgnc":"2213","ensembl":"ENSG00000163359","omim":"120250","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-09","source":"31471117[PMID]_30706156[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030095","label":"Reduced muscle collagen VI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009058","label":"Increased muscle lipid content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001220","label":"Interphalangeal joint contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001073","label":"Cigarette-paper scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010176","label":"Curved toe phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012497","label":"Reduced maximal expiratory pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}