{"orpha":263,"name":"Limb-girdle muscular dystrophy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["LGMD"],"definition":"Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263/","orphanet_url":"https://www.orpha.net/en/disease/detail/263","names":{"fr":{"name":"Dystrophie musculaire des ceintures","synonyms":["LGMD"],"definition":"La dystrophie musculaire des ceintures (DMC) est un groupe hétérogène de dystrophies musculaires caractérisé par une faiblesse proximale affectant les ceintures scapulaire et pelvienne. Des troubles respiratoires et cardiaques peuvent s'observer dans certaines formes de DMC."},"de":{"name":"Gliedergürtelmuskeldystrophie","synonyms":["LGMD"],"definition":"Die Gliedergürtel-Muskeldystrophien (LGMD) sind eine Gruppe von erblichen, progressiven Muskelkrankheiten, bei denen die Muskulatur des Schulter- und Beckengürtels überwiegend oder ausschließlich betroffen ist. Bei bestimmten Formen der LGMD können kardiale und respiratorische Beeinträchtigungen beobachtet werden."},"es":{"name":"Distrofia muscular de cinturas","synonyms":["LGMD"],"definition":"La distrofia muscular de cinturas (LGMD) es un grupo heterogéneo de distrofias musculares caracterizado por debilidad proximal que afecta a la cintura escapular y pélvica. En algunas formas de LGMD se puede observar afectación cardiorrespiratoria."},"it":{"name":"Distrofia muscolare dei cingoli","synonyms":["LGMD"],"definition":"La distrofia muscolare dei cingoli (LGMD) comprende un gruppo eterogeneo di distrofie muscolari caratterizzate da debolezza prossimale dei cingoli pelvici e delle spalle. In alcune forme di LGMD può essere compromessa la funzione cardiaca e respiratoria."},"nl":{"name":"Limb-girdle-spierdystrofie","synonyms":["Bekken- en schoudergordel-spierdystrofie","LGMD","Ledemaatgordel-spierdystrofie"],"definition":"Limb-girdle-spierdystrofie (LGMD) (bekkengordel-spierdystrofie) is een heterogene groep musculaire dystrofieën die wordt gekarakteriseerd door een proximale zwakheid die de bekken- en schoudergordels treft. Bij sommige vormen van LGMD kunnen hart- en ademhalingsstoornissen waargenomen worden."},"pt":{"name":"Distrofia muscular das cinturas","definition":"A distrofia muscular das cinturas (DMC) é um grupo heterogéneo de distrofias musculares caracterizadas por fraqueza proximal que afeta as cinturas pélvica e escapular. Em certas formas de DMC podem observar-se alterações cardíacas e respiratórias."},"pl":{"name":"Dystrofia obręczowo-kończynowa","synonyms":["LGMD"]},"cs":{"name":"Pletencová svalová dystrofie","synonyms":["LGMD"]},"uk":{"name":"Кінцівково-поясна м’язова дистрофія","synonyms":["LGMD"],"definition":"Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD."},"zh":{"name":"肢带肌营养不良","synonyms":["LGMD"]},"tr":{"name":"Ekstremite-kavşak tip kas distrofisi","synonyms":["LGMD"]}},"xrefs":[{"source":"ICD-11","code":"8C70.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"887807212"},{"source":"MONDO","code":"0016971","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16971","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D049288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0686353","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6907","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[{"orpha":102014,"name":"Autosomal dominant limb-girdle muscular dystrophy","type":"Category"},{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.81,"area":"Netherlands","status":"Validated","source":"8931572[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.27,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Egypt","status":"Validated","source":"16210862[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.9,"area":"Spain","status":"Validated","source":"9762961[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Ireland","status":"Validated","source":"8845721[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.55,"area":"Japan","status":"Validated","source":"1745328[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.32,"area":"Worldwide","status":"Validated","source":"25532075[PMID]"}],"phenotypes":null}