{"orpha":456369,"name":"Polyglucosan body myopathy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-456369/","orphanet_url":"https://www.orpha.net/en/disease/detail/456369","names":{"fr":{"name":"Myopathie à corps de polyglucosane type 2","synonyms":["PGBM2"],"definition":"Maladie rare de stockage du glycogène caractérisée par une myopathie lentement progressive avec stockage du polyglucosan dans les fibres musculaires. L'âge d'apparition des signes cliniques varie de l'enfance à la fin de l'âge adulte. Les patients manifestent une faiblesse proximale ou proximodistale, principalement des muscles des ceintures. Les signes cliniques variables comprennent l'intolérance à l'effort ou la myalgie. La créatine kinase sérique est normale ou légèrement élevée. Il n'y a généralement pas d'atteinte cardiaque manifeste."},"de":{"name":"Polyglucosan-Körper-Myopatie Typ 2","definition":"Eine seltene Glykogenspeicherkrankheit, die durch eine langsam fortschreitende Myopathie mit Einlagerung von Polyglucosan in den Muskelfasern gekennzeichnet ist. Das Manifestationsalter reicht von der Kindheit bis zum späten Erwachsenenalter. Die Patienten weisen eine proximale oder proximodistale Schwäche vor allem der Gliedergürtelmuskulatur auf. Zu den variablen Merkmalen gehören Belastungsintoleranz oder Myalgien. Die Kreatinkinase im Serum ist normal oder leicht erhöht. Im Allgemeinen besteht keine offensichtliche Beteiligung des Herzens."},"es":{"name":"Miopatía con cuerpos de poliglucosano tipo 2","definition":"Es una enfermedad poco frecuente por almacenamiento de glucógeno caracterizada por una miopatía de progresión lenta con depósito de poliglucosano en las fibras musculares. La edad de aparición varía desde la infancia hasta la edad adulta tardía. Los pacientes presentan debilidad proximal o proximodistal predominantemente de los músculos de la cintura escapular. Otras características variables incluyen intolerancia al ejercicio o mialgia. La creatinquinasa sérica es normal o está ligeramente elevada. Por lo general, no hay una afectación cardíaca manifiesta."},"it":{"name":"Miopatia da corpi di poliglucosano tipo 2","definition":"Si tratta di una malattia rara da deposito di glicogeno, caratterizzata da miopatia a progressione lenta con accumuli di poliglucosano nelle fibre muscolari. La malattia esordisce tra l'infanzia e la tarda età adulta. I pazienti presentano debolezza prossimale o prossimo-distale, che interessa prevalentemente i muscoli dei cingoli. Può associarsi ad intolleranza all'esercizio fisico o a mialgia. I livelli di creatin-chinasi nel siero sono nomali o lievemente elevati. Di solito non è presente un evidente interessamento cardiaco."},"nl":{"name":"Myopathie met polyglucosanlichaampjes type 2","definition":"Een zeldzame glycogeenstapelingsziekte, gekarakteriseerd door traag progressieve myopathie met stapeling van polyglucosan in spiervezels. De aanvangsleeftijd varieert van de kindertijd tot de late volwassenheid. Patiënten present eren zich met proximale of proximodistale zwakte, hoofdzakelijk van spieren van ledemaatgordels. Variabele kenmerken zijn onder meer inspanningsintolerantie en myalgie. Creatinekinasegehalte in serum is normaal of mild verhoogd. Meestal is er geen opvallende betrokkenheid van hart."},"pt":{"name":"Miopatia de corpos poliglicose, tipo 2"},"pl":{"name":"Miopatia ciałek poliglukozanowych typu 2"},"cs":{"name":"Myopatie s polyglukosanovými tělísky, typ 2"},"uk":{"name":"Поліглюкозанова міопатія тіла, тип 2","definition":"A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement."},"zh":{"name":"聚葡聚糖体2型肌病","definition":"一种罕见的糖原贮积病，其特征是缓慢进行性肌病伴肌纤维中贮积葡聚糖。发病年龄从儿童到成年晚期。患者主要表现为四肢-腰部的肌肉近端或远端无力。可变的特征包括运动不耐受或肌痛。血清肌酸激酶正常或轻度升高。通常没有明显的心脏受累。"},"tr":{"name":"Poliglukozan vücut miyopatisi tip 2"}},"xrefs":[{"source":"OMIM","code":"616199","qualifier":"E","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,"icd11_uri":"null"},{"source":"MONDO","code":"0014526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015452","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]}],"children":[],"genes":[{"symbol":"GYG1","name":"glycogenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25272951[PMID]","hgnc":"4699","ensembl":"ENSG00000163754","omim":"603942","loci":["3q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"25272951[PMID]_26203156[PMID]_26255073[PMID]_26652229[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25272951[PMID]_26203156[PMID]_26255073[PMID]_26652229[PMID]"}],"phenotypes":null}