{"orpha":206554,"name":"Fukutin-related limb-girdle muscular dystrophy R13","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive LGMD type 2M","Autosomal recessive limb-girdle muscular dystrophy type 2M","Fukutin-related LGMD R13","LGMD type 2M","LGMD2M"],"definition":"A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206554/","orphanet_url":"https://www.orpha.net/en/disease/detail/206554","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la fukutine R13","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2M","Dystrophie musculaire des ceintures type 2M","LGMD liée à la fukutine R13","LGMD type 2M","LGMD2M"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2M (LGMD2M) est une forme de dystrophie musculaire des ceintures caractérisée par l'apparition pendant la petite enfance d'une hypotonie, d'une faiblesse axiale et proximale des membres inférieurs (avec une faiblesse sévère notée après une maladie fébrile), une cardiomyopathie, et un déficit intellectuel qui peut être absent. Certains cas présentent également une hypertrophie des mollets, des cuisses et des triceps."},"de":{"name":"Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13","synonyms":["Fukutin-assoziierte LGMD R13","Gliedergürtelmuskeldystrophie LGMD Typ 2M","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2M","LGMD Typ 2M","LGMD2M"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie mit Beginn im Kleinkindalter. Die Krankheit ist gekennzeichnet durch Hypotonie, axialer und proximaler Schwäche der unteren Gliedmaßen (mit schwerer Schwäche nach fieberhaften Erkrankungen), Kardiomyopathie und normaler oder verminderter Intelligenz. In einigen Fällen wurde auch über eine Hypertrophie der Waden, der Oberschenkel und des Trizeps berichtet."},"es":{"name":"Distrofia muscular de cinturas R13 asociada a fukutina","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2M","LGMD2M"],"definition":"Es una forma de distrofia muscular de cinturas caracterizada por un inicio en la infancia con hipotonía, debilidad axial y proximal de las extremidades inferiores (con debilidad grave experimentada después de enfermedades febriles), cardiomiopatía e inteligencia normal o reducida. En algunos casos también se ha descrito hipertrofia de los gemelos, muslos y tríceps."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2M","synonyms":["LGMD2M"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2M (LGMD2M) è una forma di distrofia muscolare dei cingoli caratterizzata da ipotonia, debolezza assiale e prossimale degli arti inferiori (con debolezza significativa dopo le malattie febbrili) e cardiomiopatia ad esordio infantile; l'intelligenza è normale o subnormale. In alcuni casi sono ipertrofici i polpacci, i muscoli delle cosce e i tricipiti."},"nl":{"name":"Fukutine-gerelateerde limb-girdle-spierdystrofie R13","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2M","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2M","Autosomaal recessieve limb-girdle-spierdystrofie type 2M","Fukutine-gerelateerde LGMD R13","LGMD type 2M","LGMD2M","Limb-girdle-spierdystrofie type 2M","Autosomaal recessieve LGMD type 2M"],"definition":"Een vorm van limb-girdle-spierdystrofie gekarakteriseerd door infantiele aanvang van hypotonie, zwakte van axiale en proximale onderste ledematen (met ernstige zwakte die wordt opgemerkt na febriele ziekte), cardiomyopathie en normale of verminderde intelligentie. In enkele gevallen werd ook hypertrofie van kuit, dij en triceps gerapporteerd."},"pt":{"name":"Distrofia muscular das cinturas dos membros R13 fucutina-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2M"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2M","synonyms":["LGMD2M"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2M","synonyms":["LGMD2M"]},"uk":{"name":"Фукутин-асоційована кінцівково-поясна мязова дистрофія R13","synonyms":["Аутосомно-рецесивна LGMD типу 2М","Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2М","Повязаний з фукутином LGMD R13","LGMD тип 2M","LGMD2M"],"definition":"A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases."},"zh":{"name":"Fukutin蛋白相关的肢带肌萎缩症R13型","synonyms":["常染色体隐性遗传肢带型肌营养不良2M型"],"definition":"Fukutin基因相关肢带肌营养不良症R13是一种肢带肌营养不良症，其主要临床表现为婴儿期出现肌张力低下、下肢轴位和近端肌无力（发热后严重虚弱）、心肌病和智力正常或下降。部分患者出现小腿肌、大腿肌和三头肌肥大。"},"tr":{"name":"Fukutin -ilişkili ekstremite kavşak tip kas distrofisi R13","synonyms":["LGMD2M","LGMD tipi 2M","Fukutin-ilişkili LGMD R13","Otozomal çekinik LGMD tip 2M","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2M"]}},"xrefs":[{"source":"OMIM","code":"611588","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":"attributed","validated":true},{"source":"MONDO","code":"0012699","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566912","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969040","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":371176,"name":"Congenital disorder of glycosylation with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":217610,"name":"Neuromuscular disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":207122,"name":"Qualitative or quantitative defects of fukutin","classifications":[156]}],"children":[],"genes":[{"symbol":"FKTN","name":"fukutin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"3622","ensembl":"ENSG00000106692","omim":"607440","loci":["9q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17878207[PMID]_19342235[PMID]_19179078[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17878207[PMID]_19342235[PMID]_19179078[PMID]"}],"phenotypes":null}