{"orpha":119,"name":"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2E","Beta-sarcoglycan-related LGMD R4","Beta-sarcoglycanopathy","LGMD due to beta-sarcoglycan deficiency","LGMD type 2E","LGMD2E","Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2E"],"definition":"A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-119/","orphanet_url":"https://www.orpha.net/en/disease/detail/119","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée au bêta-sarcoglycane R4","synonyms":["Bêta-sarcoglycanopathie","Dystrophie musculaire des ceintures autosomique récessive type 2E","Dystrophie musculaire des ceintures par déficit en bêta-sarcoglycane","Dystrophie musculaire des ceintures type 2E","LGMD liée au bêta-sarcoglycane R4","LGMD par déficit en bêta-sarcoglycane","LGMD type 2E","LGMD2E"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2E (LGMD2E) est un sous-type de dystrophie musculaire des ceintures autosomique récessive survenant de l'enfance à l'adolescence. Elle se présente par une faiblesse progressive des muscles des ceintures scapulaire et pelvienne, la ceinture pelvienne étant la plus touchée (muscles adducteurs et fléchisseurs de la hanche). Habituellement, les muscles des genoux sont les premiers et les plus affectés. Les stades avancés de la maladie sont caractérisés par une atteinte de la ceinture scapulaire (conduisant à un décollement des omoplates) et des groupes musculaires distaux. Une hypertrophie des mollets, une cardiomyopathie, une atteinte respiratoire, des contractures tendineuses, une scoliose et une myoglobinurie induite par l'exercice peuvent s'observer."},"de":{"name":"Beta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R4","synonyms":["Beta-Sarkoglykan-assoziierte LGMD R4","Beta-Sarkoglykanopathie","Gliedergürtelmuskeldystrophie Typ 2E","Gliedergürtelmuskeldystrophie durch beta-Sarkoglykan-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2E","LGMD Typ 2E","LGMD durch beta-Sarkoglykan-Defizienz","LGMD2E"],"definition":"Eine Unterform der autosomal-rezessiven Gliedergürtel-Muskeldystrophie, die durch eine im Kindes- bis Jugendalter beginnende, fortschreitende Muskelschwäche des Becken- und Schultergürtels gekennzeichnet ist, die insbesondere den Beckengürtel (Adduktoren und Hüftbeuger) betrifft. Normalerweise gehört die Kniemuskulatur zu den frühesten und am meisten betroffenen Muskeln. In fortgeschrittenen Stadien wird eine Beteiligung des Schultergürtels (die zu muskulärer Schwäche des Schulterblatts führt) und der distalen Muskelgruppen beobachtet. Wadenhypertrophie, Kardiomyopathie, Beeinträchtigung der Atmung, Sehnenkontrakturen, Skoliose und trainingsinduzierte Myoglobinurie können ebenfalls beobachtet werden."},"es":{"name":"Distrofia muscular de cinturas R4 asociada a beta-sarcoglicano","synonyms":["Beta-sarcoglicocanopatía","Distrofia muscular de cinturas autosómica recesiva tipo 2E","Distrofia muscular de cinturas por deficiencia de beta-sarcoglicano","LGMD2E"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de inicio en la infancia o adolescencia y caracterizado por un debilitamiento progresivo de la cintura pélvica y escapular, que afecta particularmente a la cintura pélvica (aductores y flexores de la cadera). Por lo general, la musculatura de las rodillas es la más afectada y más tempranamente. En estadíos avanzados, se observa una afectación de la cintura escapular (que resulta en escápula alada) y se pueden observar los grupos de músculos distales. También puede observarse hipertrofia de la pantorrilla, cardiomiopatía, afectación respiratoria, contracturas tendinosas, escoliosis y mioglobinuria inducida por ejercicio."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2E","synonyms":["LGMD2E","Beta-sarcoglicanopatia","Distrofia muscolare dei cingoli da deficit di beta-sarcoglicano"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2E (LGMD2E) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza progressiva dei muscoli dei cingoli pelvici e delle spalle, che interessa in particolare il cingolo pelvico (adduttori e flessori dell'anca); la malattia esordisce durante l'infanzia o l'adolescenza. Di solito i muscoli delle ginocchia sono i primi ad essere interessati e lo sono in maggior misura. Negli stadi avanzati, sono colpiti i cingoli delle spalle (che comportano la presenza di scapole alate) e i gruppi muscolari distali. Altri segni sono l'ipertrofia del polpaccio, la cardiomiopatia, l'insufficienza respiratoria, le contratture dei tendini, la scoliosi e la mioglobinuria indotta dall'esercizio."},"nl":{"name":"Bèta-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R4","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2E","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2E","Autosomaal recessieve limb-girdle-spierdystrofie type 2E","Bèta-sarcoglycaan-gerelateerde LGMD R4","Bèta-sarcoglycanopathie","LGMD door bèta-sarcoglycaandeficiëntie","LGMD type 2E","LGMD2E","Limb-girdle-spierdystrofie door bèta-sarcoglycaandeficiëntie","Limb-girdle-spierdystrofie type 2E"],"definition":"Een subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door aanvang in de kindertijd tot adolescentie van progressieve zwakte van spieren van de bekken- en schoudergordels die vooral de bekkengordel (adductoren en flexoren van heup) treft. Meestal zijn de knieën de spieren die het vroegst en het meest worden aangetast. In verder gevorderde stadia wordt betrokkenheid van de schoudergordel (wat leidt tot afstaande schouderbladen) en de distale spiergroepen waargenomen. Hypertrofie van kuit, cardiomyopathie, ademhalingsproblemen, peescontracturen, scoliose en inspanningsgeïnduceerde myoglobinurie kunnen ook waargenomen worden."},"pt":{"name":"Distrofia muscular das cinturas dos membros R4 beta-sarcoglicano-relacionada","synonyms":["Beta-sarcoglicanopatia","Distrofia muscular das cinturas dos membros por deficiência de beta-sarcoglicano","Distrofia muscular das cinturas dos memebros autossómica recessiva tipo 2E"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2E","synonyms":["Beta-sarkoglikanopatia","Dystrofia obręczowo-kończynowa z powodu niedoboru beta-sarkoglikanu","LGMD2E"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2E","synonyms":["Beta-sakroglykanopatie","LGMD2E","Pletencová svalová dystrofie způsobená deficitem beta-sakroglykanu"]},"uk":{"name":"Бета-саркоглікан-залежна мязова дистрофія скелетних мязів кінцівок R4","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Е","Бета-саркогліканопатія","LGMD R4, повязаний з бета-саркогліканом","LGMD внаслідок дефіциту бета-саркогліканів","LGMD тип 2E","LGMD2E","Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту бета-саркогліканів","Мязова дистрофія мязів поясу кінцівок, тип 2Е"],"definition":"A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed."},"zh":{"name":"R4型β肌聚糖相关性肢带肌营养不良","synonyms":["β-肌聚糖病缺乏所致肢带型肌营养不良症"]},"tr":{"name":"Beta-sarkoglikan--ilişkili ekstremite kavşak tip kas distrofisi R4","synonyms":["LGMD2E","LGMD tip 2E","Beta-sarkoglikanopati","Beta-sarkoglikaN-ilişkili LGMD R4","Ekstremite-kavşak tipi kas distrofisi tip 2E","Beta-sarkoglikan eksikliğine bağlı LGMD","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2E","Beta-sarkoglikan eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"604286","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":"867128398"},{"source":"MONDO","code":"0011423","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858593","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3851","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":217610,"name":"Neuromuscular disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":207063,"name":"Qualitative or quantitative defects of beta-sarcoglycan","classifications":[156]}],"children":[],"genes":[{"symbol":"SGCB","name":"sarcoglycan beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"10806","ensembl":"ENSG00000163069","omim":"600900","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency 2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-19","source":"15684453[PMID]_11369190[PMID]_10662809[PMID]","terms":[{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","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:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Occasional (29-5%)","criteria":null}]}}