{"orpha":353,"name":"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2C","Gamma-sarcoglycan-related LGMD R5","Gamma-sarcoglycanopathy","LGMD due to gamma-sarcoglycan deficiency","LGMD type 2C","LGMD2C","Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2C"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353/","orphanet_url":"https://www.orpha.net/en/disease/detail/353","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée au gamma-sarcoglycane R5","synonyms":["LGMD type 2C","LGMD2C","Dystrophie musculaire des ceintures autosomique récessive type 2C","Dystrophie musculaire des ceintures par déficit en gamma-sarcoglycane","Dystrophie musculaire des ceintures type 2C","Gamma-sarcoglycanopathie","LGMD liée au gamma-sarcoglycane R5","LGMD par déficit en gamma-sarcoglycane"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2C (LGMD2C) est un sous-type de dystrophie musculaire des ceintures autosomique récessive survenant pendant l'enfance. Elle se caractérise par une faiblesse progressive des muscles des ceintures scapulaire et pelvienne, et par une atrophie souvent associée à une hypertrophie des mollets, une faiblesse diaphragmatique et/ou des anomalies cardiaques variables. Des taux légèrement à modérément élevés de créatine kinase sérique sont retrouvés, ainsi qu'un signe de Gower positif."},"de":{"name":"Gamma-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R5","synonyms":["Gamma-Sarkoglykan-assoziierte LGMD R5","Gamma-Sarkoglykanopathie","Gliedergürtelmuskeldystrophie Typ 2C","Gliedergürtelmuskeldystrophie durch gamma-Sarkoglykan-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2C","LGMD Typ 2C","LGMD durch gamma-Sarkoglykan-Defizienz","LGMD2C"],"definition":"Ein Subtyp der autosomal-rezessiven Gliedergürtel-Muskeldystrophie, der durch eine im Kindesalter beginnende, progressive Schulter- und Beckengürtel-Muskelschwäche und -atrophie gekennzeichnet ist, die häufig mit Wadenhypertrophie, Zwerchfellschwäche und/oder variablen kardialen Anomalien einhergeht. Es werden leicht bis mäßig erhöhte Serum-Kreatinkinase-Werte und ein positives Gowers-Zeichen berichtet."},"es":{"name":"Distrofia muscular de cinturas R5 asociada a gamma-sarcoglicano","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2C","Distrofia muscular de cinturas por deficiencia de gamma-sarcoglicano","Gamma-sarcoglicocanopatía","LGMD2C"],"definition":"Es un subtipo de distrofia muscular autosómica recesiva de cinturas de inicio en la infancia caracterizada por debilidad progresiva de la cintura pélvica y escapular y atrofia frecuentemente asociada con hipertrofia gemelar, debilidad diafragmática y/o anomalías cardiacas variables. Se ha descrito la presencia de niveles elevados de creatinquinasa sérica de leves a moderados y signo de Gowers positivo."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2C","synonyms":["Distrofia muscolare dei cingoli da deficit di gamma-sarcoglicano","Gamma-sarcoglicanopatia","LGMD2C"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2C (LGMD2C) è un sottotipo di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza e atrofia progressiva dei muscoli del cingolo pelvico e della spalla ad esordio infantile, spesso associata a ipertrofia del polpaccio, debolezza del diaframma e/o anomalie cardiache variabili. Sono stati descritti anche livelli lievemente o moderatamente elevati di creatina chinasi nel siero e la positività del segno di Gowers."},"nl":{"name":"Gamma-sarcoglycaan-gerelateerde limb-girdle-spierdystrofie R5","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2C","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2C","Autosomaal recessieve limb-girdle-spierdystrofie type 2C","Gamma-sarcoglycaan-gerelateerde LGMD R5","Gamma-sarcoglycanopathie","LGMD door gamma-sarcoglycaandeficiëntie","LGMD type 2C","LGMD2C","Limb-girdle-spierdystrofie door gamma-sarcoglycaandeficiëntie","Limb-girdle-spierdystrofie type 2C"],"definition":"Een subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door aanvang in de kindertijd van progressieve zwakte en atrofie van spieren van de bekken- en schoudergordels, frequent geassocieerd met hypertrofie van kuit, zwakte van middenrif en/of variabele hartafwijkingen. Milde tot matige verhoging van creatinekinasegehaltes in serum en een positief teken van Gowers werden ook reeds gerapporteerd."},"pt":{"name":"Distrofia muscular das cinturas dos membros R5 gama-sarcoglicano-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2C","Distrofia muscular das cinturas dos membros por deficiência de gama-sarcoglicano","Gama-sarcoglicanopatia"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2C","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru gamma-sarkoglikanu","Gamma-sarkoglikanopatia","LGMD2C"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2C","synonyms":["Gama-sakrokanalopatie","LGMD2C","Pletencová svalová dystrofie způsobená deficitem gama-sakroglykanu"]},"uk":{"name":"Гамма-саркоглікан-залежна кінцівково-поясна м’язова дистрофія R5","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2С","Гамма-саркогліканопатія","LGMD R5, повязаний з гамма-саркогліканом","LGMD внаслідок дефіциту гамма-саркоглікану","LGMD тип 2C","LGMD2C","Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту гамма-саркоглікану","Мязова дистрофія мязів поясу кінцівок, тип 2С"],"definition":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported."},"zh":{"name":"R5型γ肌聚糖相关性肢带肌营养不良","synonyms":["γ-肌聚糖病缺乏所致肢带型肌营养不良症"]},"tr":{"name":"Gama-sarkoglikan--ilişkili ekstremite kavşak tip kas distrofisi R5","synonyms":["LGMD2C","LGMD tipi 2C","Gama-sarkoglikanopati","Gama-sarkoglikan-ilişkili LGMD R5","Ekstremite-kavşak tipi kas distrofisi tip 2C","Gama-sarkoglikan eksikliğine bağlı LGMD","Otozomal Çekinik ekstremite-kkavşak tipi kas distrofisi tip 2C","Gama-sarkoglikan eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"253700","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":"440038386"},{"source":"MONDO","code":"0009677","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535900","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410173","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2429","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":207067,"name":"Qualitative or quantitative defects of gamma-sarcoglycan","classifications":[156]}],"children":[],"genes":[{"symbol":"SGCG","name":"sarcoglycan gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"10809","ensembl":"ENSG00000102683","omim":"608896","loci":["13q12.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Medicines Agency 2011[OTHER]"},{"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":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"Japan","status":"Validated","source":"20350330[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-30","source":"14660840[PMID]_11053682[PMID]_10720277[PMID]_11053682[PMID]","terms":[{"hpo":"HP:0004311","label":"Abnormal macrophage morphology","frequency":"Frequent (79-30%)","criteria":null},{"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: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:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100284","label":"EMG: myotonic discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003730","label":"EMG: myotonic runs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030007","label":"EMG: positive sharp waves","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:0100297","label":"Increased endomysial connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025169","label":"Left ventricular systolic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null}]}}