{"orpha":219,"name":"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2F","Autosomal recessive limb-girdle muscular dystrophy type 2F","Delta-sarcoglycan-related LGMD R6","Delta-sarcoglycanopathy","LGMD due to delta-sarcoglycan deficiency","LGMD type 2F","LGMD2F"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-219/","orphanet_url":"https://www.orpha.net/en/disease/detail/219","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée au delta-sarcoglycane R6","synonyms":["Delta-sarcoglycanopathie","Dystrophie musculaire des ceintures autosomique récessive type 2F","Dystrophie musculaire des ceintures par déficit en delta-sarcoglycane","Dystrophie musculaire des ceintures type 2F","LGMD liée au delta-sarcoglycane R6","LGMD par déficit en delta-sarcoglycane","LGMD type 2F","LGMD2F"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2F (LGMD2F) est une sous-type de dystrophie musculaire des ceintures autosomique récessive, survenant à des âges variés. Elle se caractérise par une faiblesse progressive et une fonte des muscles proximaux des ceintures scapulaire et pelvienne, souvent associés à une atteinte respiratoire progressive et une cardiomyopathie. Sont aussi observées une hypertrophie des mollets, des crampes musculaires et des taux élevés en créatine kinase sérique. Le développement neuro-psychomoteur est généralement normal."},"de":{"name":"Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6","synonyms":["Delta-Sarkoglykan-assoziierte LGMD R6","Delta-Sarkoglykanopathie","Gliedergürtelmuskeldystrophie Typ 2F","Gliedergürtelmuskeldystrophie durch delta-Sarkoglykan-Defizienz","Gliedergürtelmuskeldystrophie durch delta-Sarkoglykan-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2F","LGMD Typ 2F","LGMD durch delta-Sarkoglykan-Defizienz","LGMD2F"],"definition":"Ein Subtyp der autosomal-rezessiven Gliedergürtel-Muskeldystrophie mit variablem Manifestationsalter, das durch eine progressive Schwäche und Schwund der proximalen Skelettmuskeln des Schulter- und Beckengürtels gekennzeichnet ist, häufig in Verbindung mit einer progressiven Beeinträchtigung der Atemmuskulatur und einer Kardiomyopathie. Wadenhypertrophie, Muskelkrämpfe und erhöhte Serum-Kreatinkinase-Werte sind weitere Merkmale. Die neuropsychomotorische Entwicklung ist in der Regel normal."},"es":{"name":"Distrofia muscular de cinturas R6 asociada a delta-sarcoglicano","synonyms":["Delta-sarcoglicocanopatía","Distrofia muscular de cinturas autosómica recesiva tipo 2F","Distrofia muscular de cinturas por deficiencia de delta-sarcoglicano","LGMD2F"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de edad variable de inicio caracterizado por debilidad progresiva y atrofia de los músculos esqueléticos proximales de la cintura pélvica y escapular, y frecuentemente asociado con deterioro progresivo de los músculos respiratorios y miocardiopatía. También se observa hipertrofia gemelar, calambres musculares y elevación de los niveles séricos de creatinquinasa. El desarrollo neuropsicomotor suele ser normal."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2F","synonyms":["Delta-sarcoglicanopatia","Distrofia muscolare dei cingoli da deficit di delta-sarcoglicano","LGMD2F"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2F (LGMD2F) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza e atrofia progressiva dei muscoli scheletrici prossimali dei cingoli pelvici e della spalla, spesso associata alla compromissione progressiva dei muscoli respiratori e a cardiomiopatia; l'età di esordio è variabile. Si osservano anche ipertrofia del polpaccio, crampi muscolari e livelli elevati di creatina chinasi nel siero. In genere lo sviluppo neuropsicomotorio è normale. ."},"nl":{"name":"Delta-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R6","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2F","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2F","Autosomaal recessieve limb-girdle-spierdystrofie type 2F","Delta-sarcoglycaan-gerelateerde LGMD R6","Delta-sarcoglycanopathie","LGMD door delta-sarcoglycaandeficiëntie","LGMD type 2F","LGMD2F","Limb-girdle-spierdystrofie 2F","Limb-girdle-spierdystrofie door delta-sarcoglycaandeficiëntie"],"definition":"Een subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door een variabele aanvangsleeftijd van progressieve zwakte en atrofie van proximale skeletspieren van schouder- en bekkengordel, frequent geassocieerd met progressieve functiestoornis van ademhalingsspieren en cardiomyopathie. Hypertrofie van kuit, spierkrampen en een sterk verhoogd gehalte van creatinekinase in serum worden ook waargenomen. De neuropsychomotorische ontwikkeling is doorgaans normaal."},"pt":{"name":"Distrofia muscular das cinturas dos membros R6 delta-sarcoglicano-relacionada","synonyms":["Delta-sarcoglicanopatia","Distrofia muscular das cinturas dos membros por deficiência de delta-sarcoglicano","Distrofia muscular das cinturasdos membros autossómica recessiva tipo 2F"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu2F","synonyms":["Delta-sarkoglikanopatia","Dystrofia obręczowo-kończynowa z powodu niedoboru delta-sarkoglikanu","LGMD2F"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2F","synonyms":["Delta-sakroglykanopatie","LGMD2F","Pletencová svalová dystrofie způsobená deficitem delta-sakroglykanu"]},"uk":{"name":"Дельта-саркоглікан-залежна кінцівково-поясна м’язова дистрофія R6","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2F","Дельта-саркогліканопатія","LGMD R6, повязаний з дельта-саркогліканом","LGMD внаслідок дефіциту дельта-саркоглікану","LGMD тип 2F","LGMD2F","Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту дельта-саркоглікану","Мязова дистрофія мязів поясу кінцівок, тип 2F"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal."},"zh":{"name":"R6型Δ肌聚糖相关性肢带肌营养不良","synonyms":["δ-肌聚糖病缺乏所致肢带型肌营养不良症"]},"tr":{"name":"Delta-sarkoglikan--ilişkili ekstremite kavşak tip kas distrofisi R6","synonyms":["LGMD2F","LGMD tipi 2F","Delta-sarkoglikanopati","Delta-sarkoglikan-ilişkili LGMD R6","Ekstremite-kavşak tipi kas distrofisi tip 2F","Delta-sarkoglikan eksikliğine bağlı LGMD","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2F","Delta-sarkoglikan eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"601287","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":"667751114"},{"source":"MONDO","code":"0011028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535896","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832525","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8573","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":207070,"name":"Qualitative or quantitative defects of delta-sarcoglycan","classifications":[156]}],"children":[],"genes":[{"symbol":"SGCD","name":"sarcoglycan delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"10807","ensembl":"ENSG00000170624","omim":"601411","loci":["5q33.2-q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"European Medicines Agency 2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"10735275[PMID]","terms":[{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008956","label":"Proximal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008948","label":"Proximal upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null}]}}