{"orpha":62,"name":"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-sarcoglycan-related LGMD R3","Alpha-sarcoglycanopathy","Autosomal recessive limb-girdle muscular dystrophy type 2D","LGMD due to alpha-sarcoglycan deficiency","LGMD type 2D","LGMD2D","Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2D"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-62/","orphanet_url":"https://www.orpha.net/en/disease/detail/62","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à l'alpha-sarcoglycane R3","synonyms":["Alpha-sarcoglycanopathie","Dystrophie musculaire des ceintures autosomique récessive type 2D","Dystrophie musculaire des ceintures par déficit en alpha-sarcoglycane","Dystrophie musculaire des ceintures type 2D","LGMD liée à l'alpha-sarcoglycane R3","LGMD par déficit en alpha-sarcoglycane","LGMD type 2D","LGMD2D"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2D (LGMD2D) est un sous-type de dystrophie musculaire des ceintures autosomique récessive. Elle se caractérise par l'apparition au cours de l'enfance d'une faiblesse proximale progressive des muscles des ceintures scapulaire et pelvienne, ce qui conduit à des difficultés pour marcher, une scapula ailée, une hypertrophie des mollets et des contractures des tendons d'Achille, induisant une démarche sur la pointe des pieds. L'atteinte respiratoire et cardiaque est rare."},"de":{"name":"Alpha-Sarkoglykan assoziierte Gliedergürtelmuskeldystrophie R3","synonyms":["Alpha-Sarkoglykanopathie","Alpha-Sarkoglykanopathie-assoziierte LGMD R3","Gliedergürtelmuskeldystrophie Typ 2D","Gliedergürtelmuskeldystrophie durch alpha-Sarkoglykan-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2D","LGMD Typ 2D","LGMD durch alpha-Sarkoglykan-Defizienz","LGMD2D"],"definition":"Eine Subtyp der autosomal-rezessiven Gliedergürtel-Muskeldystrophie, die durch eine im Kindesalter beginnende progressive proximale Schwäche der Schulter- und Beckengürtelmuskulatur gekennzeichnet ist, die zu Schwierigkeiten beim Gehen, Scapula alata, Wadenhypertrophie und Kontrakturen der Achillessehne führt, die zu einem Zehenspitzen-Gangbild führen. Eine kardiale und respiratorische Beteiligung ist selten."},"es":{"name":"Distrofia muscular de cinturas R3 asociada a alfa-sarcoglicano","synonyms":["Alfa-sarcoglicocanopatía","Distrofia muscular de cinturas autosómica recesiva tipo 2D","Distrofia muscular de cinturas por deficiencia de alfa-sarcoglicano","LGMD2D"],"definition":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de inicio en la infancia caracterizado por debilidad proximal progresiva de los músculos de la cintura pélvica y escapular, que resulta en dificultad para caminar, escápula alada, hipertrofia de la pantorrilla y contracturas del tendón de Aquiles que conducen a un patrón de marcha en puntillas. La afectación cardiorrespiratoria es infrecuente."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2D","synonyms":["Alfa-sarcoglicanopatia","Distrofia musculare dei cingoli da deficit di alfa-sarcoglicano"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2D (LGMD2D) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza progressiva dei muscoli prossimali dei cingoli pelvici e della spalla ad esordio infantile, che determina difficoltà della deambulazione, scapole alate, ipertrofia dei polpacci e contratture del tendine d'Achille, che causano un'andatura ''in punta di piedi''. E' raro l'interessamento cardiaco e respiratorio."},"nl":{"name":"Alfa-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R3","synonyms":["Alfa-sarcoglycaan-gerelateerde LGMD R3","Alfa-sarcoglycanopathie","Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2D","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2D","Autosomaal recessieve limb-girdle-spierdystrofie type 2D","LGMD door alfa-sarcoglycaandeficiëntie","LGMD type 2D","LGMD2D","Limb-girdle-spierdystrofie door alfa-sarcoglycaandeficiëntie","Limb-girdle-spierdystrofie type 2D"],"definition":"Een subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door aanvang in de kindertijd van progressieve, proximale zwakte van spieren van de bekken- en schoudergordels die resulteert in moeilijkheden met stappen, afstaande schouderbladen, hypertrofie van kuit en contracturen van de achillespees, wat leidt tot tenenloop (looppatroon waarbij alleen de tenen gebruikt worden). Cardiale en respiratoire betrokkenheid zijn zeldzaam."},"pt":{"name":"Distrofia muscular das cinturas dos membros R3 alfa-sarcoglicano-relacionada","synonyms":["Alfa-sarcoglicanopatia","Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2D","Distrofia muscular das cinturas dos membros por deficiência de alfa-sarcoglicano"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2D","synonyms":["Alfa-sarkoglikanopatia","Dystrofia obręczowo-kończynowa z powodu niedoboru alfa-sarkoglikanu","LGMD2D"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2D","synonyms":["Alfa-sarkoglykanopatie","LGMD2D","Pletencová svalová dystrofie způsobená deficitem alfa-sarkoglykanu"]},"uk":{"name":"Альфа-саркоглікан-залежна кінцівково-поясна м’язова дистрофія R3","synonyms":["Альфа-саркогліканопатія","Альфа-саркоглікан-залежний LGMD R3","Аутосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2D","LGMD внаслідок дефіциту альфа-саркогліканів","LGMD тип 2D","LGMD2D","Мязова дистрофія мязів поясу кінцівок внаслідок дефіциту альфа-саркоглікану","Мязова дистрофія мязів поясу кінцівок, тип 2D"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare."},"zh":{"name":"α-肌糖相关性肢带型肌营养不良R3","synonyms":["常染色体隐性肢带型肌营养不良2D型"]},"tr":{"name":"Alfa-sarkoglikan-ilişkili ekstremite kavşak tip kas distrofisi R3","synonyms":["LGMD2D","LGMD tip 2D","Alfa-sarkoglikanopati","Alfa-sarkoglikan-ilişkili LGMD R3","Ekstremite-kuşak kas distrofisi tip 2D","Alfa-sarkoglikan eksikliğine bağlı LGMD","Otozomal Çekinik ekstremite-kuşak kas distrofisi tip 2D","Alfa-sarkoglikan eksikliğine bağlı ekstremite-kuşak kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"608099","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1066309170"},{"source":"MONDO","code":"0011968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936332","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"438","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":207060,"name":"Qualitative or quantitative defects of alpha-sarcoglycan","classifications":[156]}],"children":[],"genes":[{"symbol":"SGCA","name":"sarcoglycan alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19798725[PMID]_21856579[PMID]_20301582[PMID]","hgnc":"10805","ensembl":"ENSG00000108823","omim":"600119","loci":["17q21.33"]}],"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":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"22303798[PMID]_9585331[PMID]","terms":[{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006467","label":"Limited shoulder movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}