{"orpha":25980,"name":"X-linked myopathy with excessive autophagy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XMEA"],"definition":"A rare X-linked myopathy characterized by childhood or adult-onset of slowly progressive muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-25980/","orphanet_url":"https://www.orpha.net/en/disease/detail/25980","names":{"fr":{"name":"Myopathie avec autophagie excessive liée à l'X","definition":"Myopathie rare liée à l'X, caractérisée par une faiblesse musculaire progressant lentement, apparaissant pendant l'enfance ou à l'âge adulte, et par un aspect histologique unique (vacuoles autophagiques à caractéristiques sarcolemmales)."},"de":{"name":"X-chromosomale Myopathie mit exzessiver Autophagie","synonyms":["XMEA"],"definition":"Eine seltene X-chromosomale Myopathie, die durch eine langsam fortschreitende Muskelschwäche im Kindes- oder Erwachsenenalter und einzigartige histopathologische Befunde (autophagische Vakuolen mit sarkolemmalen Merkmalen) gekennzeichnet ist."},"es":{"name":"Miopatía con autofagia excesiva ligada al cromosoma X","synonyms":["XMEA"],"definition":"Es una miopatía poco frecuente ligada al cromosoma X caracterizada por el inicio en la infancia o en la edad adulta de debilidad muscular de progresión lenta y hallazgos histopatológicos únicos (vacuolas autofágicas con características sarcolemales)."},"it":{"name":"Miopatia con autofagia eccessiva","synonyms":["Miopatia vacuolare"]},"nl":{"name":"X-gebonden myopathie met overmatige autofagie","synonyms":["XMEA"],"definition":"Een zeldzame X-gebonden myopathie, gekenmerkt door aanvang in de kindertijd of volwassenheid van traag progressieve spierzwakte en unieke histopathologische bevindingen (autofagocytaire vacuolen met kenmerken van sarcolemma)."},"pt":{"name":"Miopatia ligada ao X com autofagia excessiva","synonyms":["Miopatia vacuolar"]},"pl":{"name":"Miopatia sprzężona z chromosomem X ze wzmożoną autofagią","synonyms":["Miopatia wakuolarna","XMEA"]},"cs":{"name":"X-vázaná myopatie s excesivní autofagií","synonyms":["Vakuolární myopatie","XMEA"]},"uk":{"name":"Х-зчеплена міопатія з надмірною аутофагією","synonyms":["XMEA"],"definition":"X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings."},"zh":{"name":"X连锁肌病伴过度自噬","synonyms":["XMEA"]},"tr":{"name":"Aşırı otofaji ile seyreden X'e bağlı miyopati","synonyms":["XMEA"]}},"xrefs":[{"source":"OMIM","code":"310440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"347037859"},{"source":"MONDO","code":"0010684","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839615","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206662,"name":"Inclusion myopathy","classifications":[156,181]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VMA21","name":"vacuolar ATPase assembly factor VMA21","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23315026[PMID]","hgnc":"22082","ensembl":"ENSG00000160131","omim":"300913","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"25809233[PMID]_38517523[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25809233[PMID]"}],"phenotypes":null}