{"orpha":476084,"name":"BVES-related limb-girdle muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome","BVES-related LGMD","LGMD R25 BVES-related","LGMD type 2X","LGMD2X","Limb-girdle muscular dystrophy 2X"],"definition":"A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476084/","orphanet_url":"https://www.orpha.net/en/disease/detail/476084","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à BVES","synonyms":["Dystrophie musculaire des ceintures 2X","LGMD R25 associée à BVES","LGMD associée à BVES","LGMD type 2X","LGMD2X","Syndrome autosomique récessive de dystrophie musculaire des ceintures-arythmie cardiaque"],"definition":"Sous-type rare, autosomique récessif de dystrophie musculaire des ceintures, caractérisé par un bloc atrio-ventriculaire conduisant à des syncopes répétées, des taux élevés de créatine kinase sérique et l'apparition à l'âge adulte d'une faiblesse et d'une atrophie lentement progressives des muscles proximaux des membres. Les signes dystrophiques musculaires observés à la biopsie associent une variabilité du diamètre des fibres, une augmentation des noyaux centraux et la présence de fibres nécrotiques et régénératives."},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2X","synonyms":["Autosomal-rezessive Gliedergürtelmuskeldystrophie-Herzrhythmusstörung-Syndrom","LGMD2X"],"definition":"Ein seltener Subtyp der autosomal-rezessiven Gliedergürtel-Muskeldystrophie, gekennzeichnet durch einen atrioventrikulären Block, der zu wiederholten Synkopen führt, erhöhte Kreatinkinase-Serumspiegel und eine im Erwachsenenalter langsam fortschreitende Skelettmuskelschwäche und -atrophie der proximalen Gliedmaßen. Zu den in der Muskelbiopsie beobachteten muskulären dystrophischen Veränderungen gehören die Variabilität des Durchmessers, vergrößerte zentrale Kerne und das Vorhandensein von nekrotischen und regenerierenden Fasern."},"es":{"name":"Distrofia muscular de cinturas autosómica recesiva tipo 2X","synonyms":["LGMD2X","Síndrome de arritmia cardíaca-distrofia muscular de cinturas autosómica recesiva"],"definition":"Es un subtipo poco frecuente de distrofia muscular de cinturas autosómica recesiva caracterizada por bloqueo auriculoventricular que da lugar a episodios repetidos de síncope, niveles séricos elevados de creatinquinasa y un inicio en el adulto de debilidad y atrofia lentamente progresivas de la musculatura esquelética de las extremidades proximales. Las alteraciones musculares distróficas observadas en la biopsia muscular incluyen variabilidad del diámetro, mayor número de núcleos centralizados y presencia de fibras necróticas y en regeneración."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva tipo 2X","definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2X è un sottotipo raro di distrofia muscolare dei cingoli autosomica recessiva, caratterizzato da blocco atrioventricolare che esita in episodi ripetuti di sincope, livelli elevati di creatin-chinasi nel siero e debolezza ed atrofia a progressione lenta dei muscoli scheletrici prossimali. La biopsia dei muscoli evidenzia alterazioni distrofiche (variabilità del diametro, aumento dei nuclei centrali e presenza di fibre necrotiche e rigeneranti)."},"nl":{"name":"Autosomaal recessieve limb-girdle-spierdystrofie type 2X","synonyms":["Autosomaal recessieve ledemaatgordel-spierdystrofie type 2X","Autosomaal recessieve limb-girdle-spierdystrofie - hartritmestoornis-syndroom","LGMD2X","Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2X"],"definition":"Een zeldzaam subtype van autosomaal recessieve limb-girdle-spierdystrofie, gekarakteriseerd door atrioventriculair blok dat leidt tot herhaaldelijke episodes van syncope, verhoogde gehaltes van creatinekinase in serum, en aanvang in de volwassenheid van traag progressieve zwakte en atrofie van skeletspieren in proximale ledematen. Dystrofische veranderingen aan spieren die worden waargenomen in spierbiopten zijn onder meer een variabele diameter, toename van centrale kernen, en aanwezigheid van necrotische en regenererende vezels."},"pt":{"name":"Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2X","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2X"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2X","synonyms":["LGMD2X","Zespół autosomalnej recesywnej dystrofii obręczowo-kończynowej i arytmii serca"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie typ 2X","synonyms":["LGMD2X","Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome","Autozomálně recesivní syndrom svalové dystrofie končetin a srdeční arytmie"]},"uk":{"name":"Кінцівково-поясна мязова дистрофія, повязана з BVES","synonyms":["Синдром аутосомно-рецесивної мязової дистрофії поясу кінцівок - серцевої аритмії","LGMD, повязаний з BVES","LGMD R25, повязаний з BVES","LGMD тип 2X","LGMD2X","Дистрофія мязів поясу кінцівок 2Х"],"definition":"A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers."},"zh":{"name":"BVES相关的肢带肌营养不良症","synonyms":["常染色体隐性肢带肌营养不良症-心律失常综合征"],"definition":"是一种罕见的常染色体隐性肢带型肌营养不良亚型，其特点是房室阻滞导致反复晕厥发作，血清肌酸激酶水平升高，成年后出现缓慢进行性肢体近端骨骼肌无力和萎缩。肌肉活检中观察到的肌纤维营养不良性改变包括直径改变、中心核增大、存在坏死和再生纤维。"},"tr":{"name":"BVES -ilişkili ekstremite kavşak tip kas distrofisi","synonyms":["LGMD2X","LGMD tip 2X","BVES-ilişkili LGMD","Ekstremite-kavşak kas distrofisi 2X","Otozomal çekinik ekstremite-kavşak kas distrofisi-kardiyak aritmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"616812","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":"0014782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568138","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":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"POPDC1","name":"popeye domain cAMP effector 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26642364[PMID]","hgnc":"1152","ensembl":"ENSG00000112276","omim":"604577","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26642364[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26642364[PMID]"}],"phenotypes":null}