{"orpha":268,"name":"Dysferlin-related limb-girdle muscular dystrophy R2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2B","Dysferlin-related LGMD R2","LGMD due to dysferlin deficiency","LGMD type 2B","LGMD2B","Limb-girdle muscular dystrophy due to dysferlin deficiency","Limb-girdle muscular dystrophy type 2B"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268/","orphanet_url":"https://www.orpha.net/en/disease/detail/268","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la dysferline R2","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2B","Dystrophie musculaire des ceintures par déficit en dysferline","Dystrophie musculaire des ceintures type 2B","LGMD liée à la dysferline R2","LGMD par déficit en dysferline","LGMD type 2B","LGMD2B"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2B (LGMD2B) est un sous-type de dystrophie musculaire des ceintures autosomique récessive survenant en fin d'adolescence ou en début d'âge adulte. Elle se présente par une faiblesse proximale, lentement progressive et par une atrophie des muscles des ceintures scapulaire et pelvienne. Les muscles respiratoires et cardiaques ne sont pas impliqués. Une hypertrophie des muscles des mollets est souvent observée, ainsi que des taux élevés de créatine kinase sérique."},"de":{"name":"Dysferlin-assoziierte Gliedergürtelmuskeldystrophie R2","synonyms":["Dysferlin-assoziierte LGMD R2","Dysferlinopathie","Gliedergürtelmuskeldystrophie Typ 2B","Gliedergürtelmuskeldystrophie durch Dysferlin-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2B","LGMD Typ 2B","LGMD durch Dysferlin-Defizienz","LGMD2B"],"definition":"Eine Unterform der autosomal-rezessiven Gliedergürtel-Muskeldystrophie, die durch einen Beginn im späten Jugend- oder frühen Erwachsenenalter mit langsam fortschreitender, proximaler Schwäche und Atrophie der Schulter- und Beckengürtelmuskeln gekennzeichnet ist. Die Herz- und Atemmuskulatur ist nicht betroffen. Eine Hypertrophie der Wadenmuskulatur und stark erhöhte Serum-Kreatinkinase-Werte werden häufig beobachtet."},"es":{"name":"Distrofia muscular de cinturas R2 asociada a disferlina","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2B","Distrofia muscular de cinturas por deficiencia de disferlina","LGMD2B"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de inicio en la adolescencia tardía o en la edad adulta temprana caracterizado por debilidad proximal de progresión lenta y atrofia de los músculos de la cintura pélvica y escapular. Los músculos cardíacos y respiratorios no están afectados. Con frecuencia se observa hipertrofia de los músculos de la pantorrilla y elevación de los niveles séricos de creatina quinasa."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2B","synonyms":["Distrofia muscolare dei cingoli da deficit di disferlina","LGMD2B"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2B (LGMD2B) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza e atrofia a progressione lenta dei muscoli prossimali dei cingoli pelvici e della spalla; l'esordio avviene durante la tarda adolescenza o la prima età adulta. I muscoli cardiaci e respiratori non sono interessati. Spesso si associano ipertrofia dei muscoli del polpaccio e livelli molto elevati di creatina chinasi nel siero."},"nl":{"name":"Dysferline-gerelateerde limb-girdle-spierdystrofie R2","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2B","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2B","Autosomaal recessieve limb-girdle-spierdystrofie type 2B","Dysferline-gerelateerde LGMD R2","LGMD door dysferlinedeficiëntie","LGMD type 2B","LGMD2B","Limb-girdle-spierdystrofie door dysferlinedeficiëntie","Limb-girdle-spierdystrofie type 2B"],"definition":"Een subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door aanvang in de late adolescentie of vroege volwassenheid van traag progressieve, proximale zwakte en atrofie van spieren van bekken- en schoudergordel. Hart- en ademhalingsspieren zijn niet betrokken. Hypertrofie van kuitspieren en een sterk verhoogd gehalte van creatinekinase in serum worden geregeld waargenomen."},"pt":{"name":"Distrofia muscular das cinturas dos membros R2 disferlina-relacionada","synonyms":["Disferlinopatia","Distrofia muscular das cinturas dos membros por deficiência de disferlina","Distrofia muscular das cinturas dosmembros autossómica recessiva tipo 2B"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2B","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru dysferliny","LGMD2B"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2B","synonyms":["LGMD2B","Pletencová svalová dystrofie způsobená deficitem dysferlinu"]},"uk":{"name":"Дисферлінова кінцівково-поясна м’язова дистрофія R2","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2B","Дисферлін-залежний LGMD R2","LGMD внаслідок дефіциту дисферліну","LGMD тип 2B","LGMD2B","Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту дизферліну","Мязова дистрофія скелетних мязів кінцівок, тип 2B"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."},"zh":{"name":"R2型Dysferlin相关肢带肌营养不良","synonyms":["Dysferlin缺乏所致肢带肌营养不良"]},"tr":{"name":"Disferlin--ilişkili ekstremite kavşak tip kas distrofisi R2","synonyms":["LGMD2B","LGMD tipi 2B","Disferlin-ilişkili LGMD R2","Disferlin eksikliğine bağlı LGMD","Ekstremite-kavşak tipi kas distrofisi tip 2B","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2B","Disferlin eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"253601","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"370913678"},{"source":"MONDO","code":"0009676","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850889","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","classifications":[156,181]},{"orpha":207073,"name":"Qualitative or quantitative defects of dysferlin","classifications":[156]}],"children":[],"genes":[{"symbol":"DYSF","name":"dysferlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"3097","ensembl":"ENSG00000135636","omim":"603009","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-06","source":"23243261[PMID]_29794729[PMID]_19084402[PMID]_20301480[PMID]_10766988[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100748","label":"Muscular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045054","label":"Brachial plexus neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005085","label":"Limited knee flexion/extension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Very rare (<4-1%)","criteria":null}]}}