{"orpha":270,"name":"Oculopharyngeal muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OPMD"],"definition":"A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-270/","orphanet_url":"https://www.orpha.net/en/disease/detail/270","names":{"fr":{"name":"Dystrophie musculaire oculo-pharyngée","synonyms":["DMOP","OPMD"],"definition":"Myopathie progressive rare survenant chez l'adulte, caractérisée par un ptosis progressif de la paupière, une ophtalmoplégie, une dysphagie, une dysarthrie et une faiblesse des membres proximaux."},"de":{"name":"Muskeldystrophie, okulopharyngeale","synonyms":["OPMD"],"definition":"Eine seltene progressive Myopathie im Erwachsenenalter, die durch eine fortschreitende Ptosis der Augenlider, Dysphagie, Dysarthrie und Schwäche der proximalen Gliedmaßen gekennzeichnet ist."},"es":{"name":"Distrofia muscular oculofaríngea","synonyms":["DMOF"],"definition":"Es una miopatía progresiva poco frecuente de inicio en la edad adulta, que se caracteriza por ptosis palpebral progresiva, oftalmoplejia, disfagia, disartria y debilidad proximal de las extremidades."},"it":{"name":"Distrofia muscolare oculofaringea","synonyms":["OPMD"],"definition":"La distrofia muscolare oculofaringea (OPMD) è una miopatia progressiva rara ad esordio nell'età adulta, caratterizzata da ptosi palpebrale progressiva, oftalmoplegia, disfagia, disartria e debolezza della porzione prossimale degli arti."},"nl":{"name":"Oculofaryngeale spierdystrofie","synonyms":["OPMD"],"definition":"Een zeldzame, in de volwassenheid optredende, progressieve myopathie, gekenmerkt door progressieve ptosis van oogleden, oftalmoplegie, dysfagie, dysartrie, en zwakte van proximale ledematen."},"pt":{"name":"Distrofia muscular óculo-faríngea"},"pl":{"name":"Dystrofia oczno-gardłowa","synonyms":["OPMD"]},"cs":{"name":"Okulofaryngeální svalová dystrofie","synonyms":["OPMD"]},"uk":{"name":"Окулофарингеальна мязова дистрофія","synonyms":["OPMD"],"definition":"A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness."},"zh":{"name":"眼咽肌营养不良","synonyms":["OPMD"]},"tr":{"name":"Okülofaringeal kas distrofisi","synonyms":["OPMD"]}},"xrefs":[{"source":"OMIM","code":"164300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9C82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1354386293"},{"source":"MONDO","code":"0008116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D039141","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270952","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7245","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[],"genes":[{"symbol":"PABPN1","name":"poly(A) binding protein nuclear 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301305[PMID]","hgnc":"8565","ensembl":"ENSG00000100836","omim":"602279","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":167.0,"area":"Specific population","status":"Validated","source":"9392014[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"France","status":"Validated","source":"9392013[PMID]_2204987[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":100.0,"area":"Specific population","status":"Validated","source":"7795598[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-07","source":"20301305[PMID]_25842253[PMID]","terms":[{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003302","label":"Spondylolisthesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034045","label":"Angulated muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100304","label":"Muscle fiber intranuclear inclusion bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032342","label":"Reduced forced expiratory volume in one second","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001011","label":"Wet voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Very rare (<4-1%)","criteria":null}]}}