{"orpha":34514,"name":"Telethonin-related limb-girdle muscular dystrophy R7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2G","LGMD due to telethonin deficiency","LGMD type 2G","LGMD2G","Limb-girdle muscular dystrophy due to telethonin deficiency","Limb-girdle muscular dystrophy type 2G","Telethonin-related LGMD R7"],"definition":"A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34514/","orphanet_url":"https://www.orpha.net/en/disease/detail/34514","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la téléthonine R7","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2G","Dystrophie musculaire des ceintures par déficit en téléthonine","Dystrophie musculaire des ceintures type 2G","LGMD liée à la téléthonine R7","LGMD par déficit en téléthonine","LGMD type 2G","LGMD2G"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2G (LGMD2G) est un sous-type léger de dystrophie musculaire des ceintures, autosomique récessif. Elle se caractérise par la survenue à des âges variés (de la petite enfance à l'adolescence) d'une faiblesse des muscles proximaux des membres supérieurs et inférieurs, et d'une atrophie. Sont aussi rapportées des scapulas légèrement ailées et une hypertrophie des mollets, sans atteinte respiratoire ou cardiaque."},"de":{"name":"Telethonin-assoziierte Gliedergürtelmuskeldystrophie R7","synonyms":["Gliedergürtelmuskeldystrophie Typ 2G","Gliedergürtelmuskeldystrophie durch Telethonin-Mangel","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2G","LGMD Typ 2G","LGMD durch Telethonin-Defizienz","LGMD2G","Telethonin-assoziierte LGMD R7"],"definition":"Eine milde Unterform der autosomal-rezessiven Gliedergürtel-Muskeldystrophie mit variablen Beginn vom Säuglingsalter bis zur Adoleszenz. Sie ist gekennzeichnet durch eine progressive proximale Muskelschwäche und -atrophie der oberen und unteren Gliedmaßen, einer muskulären Schwäche des Schulterblatts (Scapula alata) und einer Wadenhypertrophie. Eine Beteiligung der Atemwege und des Herzens liegt nicht vor."},"es":{"name":"Distrofia muscular de cinturas R7 asociada a teletonina","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2G","Distrofia muscular de cinturas por deficiencia de teletonina","LGMD2G"],"definition":"Es un subtipo leve de distrofia muscular de cinturas autosómica recesiva caracterizado por una edad variable de inicio (entre la infancia y la adolescencia) de debilidad muscular proximal progresiva de las extremidades superiores e inferiores y atrofia. Se observa también escapula alada leve, hipertrofia gemelar, y ausencia de afectación cardiorrespiratoria."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2G","synonyms":["Distrofia muscolare dei cingoli da deficit di teletonina","LGMD2G"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2G (LGMD2G) è un sottotipo lieve di distrofia muscolare dei cingoli, ad eredità autosomica recessiva, caratterizzato da debolezza e atrofia progressiva dei muscoli prossimali degli arti superiori e inferiori; l'età di esordio è variabile (dall'infanzia all'adolescenza). Si osservano anche scapole alate, ipertrofia dei polpacci, senza interessamento respiratorio e cardiaco."},"nl":{"name":"Telethonine-gerelateerde limb-girdle-spierdystrofie R7","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2G","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2G","Autosomaal recessieve limb-girdle-spierdystrofie type 2G","LGMD door telethoninedeficiëntie","LGMD type 2G","LGMD2G","Limb-girdle-spierdystrofie door telethoninedeficiëntie","Limb-girdle-spierdystrofie type 2G","Telethonine-gerelateerde LGMD R7"],"definition":"Een mild subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door variabele aanvang (gaande van zuigelingentijd tot adolescentie) van progressieve spierzwakte en -atrofie van proximale bovenste en onderste ledematen. Milde scapula alata (afstaande schouderbladen), hypertrofie van kuit, en afwezigheid van respiratoire en cardiale betrokkenheid worden ook waargenomen."},"pt":{"name":"Distrofia muscular das cinturas dos membros R7 teletonina-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2G","Distrofia muscular das cinturas dos membros por deficiência de teletonina"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2G","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru teletoniny","LGMD2G"]},"cs":{"name":"Telethoninová pletencová svalová dystrofie R7","synonyms":["LGMD2G","Pletencová svalová dystrofie na podkladě deficitu telethioninu"]},"uk":{"name":"Телетонінова кінцівково-поясна м’язова дистрофія R7","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2G","LGMD внаслідок дефіциту телетоніну","LGMD тип 2G","LGMD2G","Дистрофія мязів поясу кінцівок внаслідок дефіциту телетоніну","Мязова дистрофія мязів поясу кінцівок, тип 2G","LGMD R7, повязаний з телетоніном"],"definition":"A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed."},"zh":{"name":"肌联蛋白帽蛋白相关肢带肌营养不良R7型","synonyms":["肌联蛋白帽蛋白缺乏所致肢带肌营养不良"]},"tr":{"name":"Teletonin-ilişkili ekstremite-kavşak tipi kas distrofisi R7","synonyms":["LGMD2G","LGMD tipi 2G","Telethonin-ilişkili LGMD R7","Telethonin eksikliğine bağlı LGMD","Ekstremite-kavşak tipi kas distrofisi tip 2G","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2G","Teletonin eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"601954","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":"736940214"},{"source":"MONDO","code":"0011170","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566599","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866008","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10471","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":209056,"name":"Qualitative or quantitative defects of telethonin","classifications":[156]}],"children":[],"genes":[{"symbol":"TCAP","name":"titin-cap","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"11610","ensembl":"ENSG00000173991","omim":"604488","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"12921790[PMID]_18948002[PMID]_25298746[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12921790[PMID]_18948002[PMID]_25298746[PMID]"}],"phenotypes":null}