{"orpha":602,"name":"GNE myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DMRV","Distal myopathy with rimmed vacuoles","Distal myopathy, Nonaka type","HIBM2","Hereditary inclusion body myopathy type 2","IBM2","Inclusion body myopathy type 2","Nonaka myopathy","Quadriceps-sparing myopathy"],"definition":"GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-602/","orphanet_url":"https://www.orpha.net/en/disease/detail/602","names":{"fr":{"name":"Myopathie liée à GNE","synonyms":["Myopathie à corps d'inclusion type 2","Myopathie à inclusions héréditaire type 2","Myopathie à inclusions type 2","Myopathie épargnant le quadriceps","HIBM2","IBM2","Myopathie de Nonaka","Myopathie distale type Nonaka","Myopathie distale à vacuoles bordées","Myopathie à corps d'inclusion héréditaire type 2"],"definition":"Myopathie distale autosomique récessive rare caractérisée par une faiblesse musculaire distale d'apparition précoce chez l'adulte, une évolution lente à modérée, affectant principalement le muscle tibial antérieur et épargnant généralement le muscle quadriceps fémoral. La biopsie musculaire révèle la présence de vacuoles cerclées."},"de":{"name":"GNE-Myopathie","synonyms":["DMRV","Einschlusskörperchenmyopathie Typ 2","Einschlusskörperchenmyopathie, hereditäre, Typ 2","HIBM2","IBM2","M. quadriceps-aussparende Myopathie","Myopathie, distale, Typ Nonaka","Myopathie, distale, mit intrazytoplasmatischen Einschlüssen","Nonaka-Myopathie"],"definition":"Die GNE-Myopathie ist eine seltene autosomal-rezessive distale Myopathie, die durch eine im frühen Erwachsenenalter einsetzende, langsam bis mäßig fortschreitende distale Muskelschwäche gekennzeichnet ist, die bevorzugt den M. tibialis anterior betrifft und den M. quadriceps femoris normalerweise verschont. Die Muskelbiopsie zeigt das Vorhandensein von umrandeten ('rimmed') Vakuolen."},"es":{"name":"Miopatía GNE","synonyms":["DMRV","HIBM2","IBM2","Miopatía con cuerpos de inclusión tipo 2","Miopatía de Nonaka","Miopatía distal con vacuolas ribeteadas","Miopatía distal tipo Nonaka","Miopatía hereditaria con cuerpos de inclusión tipo 2","Miopatía sin afectación del cuadriceps"],"definition":"La miopatía GNE es una miopatía distal autosómica recesiva poco frecuente, caracterizada por la aparición de debilidad muscular distal, de lenta a moderamente progresiva, de inicio temprano en el adulto, que afecta preferentemente al músculo tibial anterior y que generalmente respeta el cuadríceps femoral. La biopsia muscular revela la presencia de vacuolas ribeteadas."},"it":{"name":"Miopatia GNE","synonyms":["HIBM2","IBM2","Miopatia che risparmia i quadricipiti","Miopatia da corpi inclusi, tipo 2","Miopatia di Nonaka","Miopatia distale con vacuoli orlati","Miopatia ereditaria da corpi inclusi, tipo 2"],"definition":"La miopatia GNE è una miopatia distale rara autosomica recessiva, che esordisce nella prima età adulta con debolezza muscolare distale moderatamente progressiva, che interessa prevalentemente il muscolo tibiale anteriore e di solito risparmia i quadricipiti femorali. La biopsia dei muscoli evidenzia la presenza di vacuoli bordati."},"nl":{"name":"GNE-myopathie","synonyms":["'Inclusion body'-myopathie type 2","DMRV","Distale myopathie met omrande vacuolen","Distale myopathie met rimmed vacuoles","Distale myopathie, Nonaka-type","Erfelijke 'inclusion body'-myopathie type 2","Erfelijke inclusielichaammyopathie type 2","HIBM2","IBM2","Inclusielichaammyopathie type 2","Myopathie van Nonaka","Quadricepssparende myopathie","Spierdystrofie van Nonaka"],"definition":"GNE-myopathie is een zeldzame autosomaal recessieve distale myopathie, en wordt gekarakteriseerd door aanvang in de vroege volwassenheid van traag tot matig progressieve zwakte van distale spieren die voornamelijk de musculus tibialis anterior (voorste scheenbeenspier) treft en meestal de musculus quadriceps femoris (vierhoofdige dijspier) spaart. Analyse van spierbiopten toont de aanwezigheid van omrande vacuolen."},"pt":{"name":"Miopatia distal tipo Nonaka","synonyms":["Miopatia com corpos de inclusão tipo 2","Miopatia com corpos de inclusão, hereditária","Miopatia de Nonaka","Miopatia distal com vacúolos bordejados","Miopatia que poupa os quadriceps"]},"pl":{"name":"Miopatia dystalna typu Nonaka","synonyms":["Dziedziczna miopatia ciałek wtrętowych typu 2","HIBM2","IBM2","Miopatia ciałek wtrętowych typu 2","Miopatia dystalna z wakuolami","Miopatia Nonaka","Miopatia oszczędzająca mięsień czworogłowy"]},"cs":{"name":"GNE myopatie","synonyms":["DMRV","Distální myopatie s lemovanými vakuolami","HIBM2","IBM2","Nonakova myopatie","Myopatie opomíjející kvadriceps","Distální myopatie, Nonakův typ","Hereditární myopatie s inkluzními tělísky, typ 2","Myopatie s inkluzními tělísky, typ 2"]},"uk":{"name":"GNE міопатія","synonyms":["Дистальна міопатія з облямованими вакуолями","Дистальна міопатія, тип Нонака","DMRV","Спадкова інклюзивна міопатія тіла 2 типу","HIBM2","IBM2","Міопатія з тільцями включення 2 типу","Міопатія Нонака","Міопатія, що не пошкоджує чотириголовий мяз"],"definition":"GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles."},"zh":{"name":"包涵体肌炎病","synonyms":["遗传性包涵体肌病2型"]},"tr":{"name":"GNE miyopati","synonyms":["DMRV","IBM2","HIBM2","Nonaka miyopatisi","Kuadriseps-ayrılan miyopati","Distal miyopati, Nonaka tipi","inklüzyon cisimciği miyopatisi tip 2","Kenarlı vakuoller ile ilişkili distal miyopati","Kalıtsal inklüzyon vücut miyopatisi tip 2"]}},"xrefs":[{"source":"OMIM","code":"605820","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617158","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C75","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1306425531"},{"source":"MONDO","code":"0011603","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853926","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9493","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077945","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206653,"name":"Autosomal recessive distal myopathy","classifications":[156,181]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":206662,"name":"Inclusion myopathy","classifications":[156,181]},{"orpha":209203,"name":"Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -","classifications":[156]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"GNE","name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11916006[PMID]_20301439[PMID]","hgnc":"23657","ensembl":"ENSG00000159921","omim":"603824","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"25002140[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":66.7,"area":"Specific population","status":"Validated","source":"12743242[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-10","source":"11721884[PMID]_26208961[PMID]_23549799[PMID]_26546927[PMID]","terms":[{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100299","label":"Muscle fiber inclusion bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008963","label":"Tibialis muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100284","label":"EMG: myotonic discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030007","label":"EMG: positive sharp waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012515","label":"Hip flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006467","label":"Limited shoulder movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006251","label":"Limited wrist extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001436","label":"Abnormality of the foot musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040047","label":"Abnormality of the right hemidiaphragm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003724","label":"Shoulder girdle muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Excluded (0%)","criteria":null}]}}