{"orpha":397937,"name":"Polyglucosan body myopathy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PGBM1"],"definition":"Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397937/","orphanet_url":"https://www.orpha.net/en/disease/detail/397937","names":{"fr":{"name":"Myopathie à corps de polyglucosane type 1","synonyms":["PGBM1"],"definition":"Maladie de stockage du glycogène rare d'origine génétique caractérisée par une accumulation de polyglucosans dans divers tissus, se manifestant par une faiblesse musculaire proximale progressive des membres inférieurs et une cardiomyopathie rapidement progressive, généralement dilatée. Une atteinte hépatique et un retard de croissance peuvent être associés. Une immunodéficience et une maladie auto-inflammatoire précoces, se manifestant par des infections bactériennes récurrentes, ont également été rapportées."},"de":{"name":"Polyglucosan-Körper-Myopathie Typ 1","synonyms":["PGBM1"]},"es":{"name":"Miopatía por cuerpos de poliglucosano tipo 1","synonyms":["PGBM1"],"definition":"Es un trastorno de almacenamiento del glucógeno, genético y poco frecuente, caracterizado por la acumulación de poliglucosano en diversos tejidos. Se manifiesta con debilidad muscular proximal progresiva en las extremidades inferiores y cardiomiopatía, generalmente dilatada, de progresión rápida. Puede tener asociados afectación hepática y retraso del crecimiento. También se han descrito casos de inicio temprano de inmunodeficiencia y autoinflamación , que se presentan con infecciones bacterianas recurrentes."},"it":{"name":"Miopatia da corpi di poliglucosano, tipo 1","synonyms":["PGBM1"],"definition":"La miopatia da corpi di poliglucosano tipo 1 è una malattia genetica rara da depositi di glicogeno, caratterizzata dall'accumulo di poliglucosano in diversi tessuti, che esordisce con debolezza progressiva dei muscoli prossimali degli arti inferiori e cardiomiopatia, di solito dilatativa, a progressione rapida. Può interessare anche il fegato ed associarsi a ritardo della crescita, immunodeficienza ad esordio precoce, autoinfiammazione e si può manifestare con infezioni batteriche ricorrenti."},"nl":{"name":"Myopathie met polyglucosanlichaampjes type 1","synonyms":["PGBM1"],"definition":"Myopathie met polyglucosanlichaampjes type 1 is een zeldzame, genetische glycogeenstapelingsziekte die wordt gekarakteriseerd door accumulatie van polyglucosan in verscheidene weefsels, en die zich manifesteert met progressieve zwakte van proximale spieren in de onderste ledematen en snel progressieve, meestal gedilateerde, cardiomyopathie. Betrokkenheid van de lever en groeiretardatie kunnen geassocieerd zijn. Vroeg aanvangende immuundeficiëntie en auto-inflammatie, die zich manifesteren met recurrente bacteriële infecties, werden ook reeds gerapporteerd."},"pt":{"name":"Miopatia de corpos poliglicose"},"pl":{"name":"Miopatia z ciałkami poliglukozanowymi typu 1","synonyms":["PGBM1"],"definition":"*Miopatia z ciałkami poliglukozanowymi typu 1 jest rzadkim, genetycznie uwarunkowanym zaburzeniem spichrzania glikogenu, które charakteryzuje się gromadzeniem glikogenu w różnych tkankach. Objawy obejmują postępujące osłabienie proksymalnych mięśni kończyn dolnych i szybko postępującą kardiomiopatią, zwykle rozstrzeniową. Może towarzyszyć zajęcie wątroby i opóźnienie wzrastania. Opisywano również wcześnie pojawiający się niedobór odporności i chorobę autozapalną z nawracającymi infekcjami bakteryjnymi."},"cs":{"name":"Myopatie s polyglukanovými tělísky, typ 1","synonyms":["PGBM1"]},"uk":{"name":"Міопатія з поліглюкозановими тільцями, тип 1","synonyms":["PGBM1"],"definition":"Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported."},"zh":{"name":"葡聚糖体肌病1型","synonyms":["PGBM1"],"definition":"聚葡聚糖体肌病1型是一种罕见的遗传性糖原贮积病，其特征是聚葡聚糖在各种组织中积累，表现为下肢进行性近端肌无力和快速进行性（通常为扩张性）心肌病。肝脏受累和生长迟缓可能与之相关。早发性免疫缺陷和表现为反复细菌感染的自发性炎症也已被报道。"},"tr":{"name":"Poliglukozan vücut miyopatisi tip 1","synonyms":["PGBM1"]}},"xrefs":[{"source":"OMIM","code":"615895","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014389","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":217610,"name":"Neuromuscular disease with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"RBCK1","name":"RANBP2-type and C3HC4-type zinc finger containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23798481[PMID]_23674175[PMID]","hgnc":"15864","ensembl":"ENSG00000125826","omim":"610924","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"23798481[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23798481[PMID]"}],"phenotypes":null}