{"orpha":732,"name":"Polymyositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-732/","orphanet_url":"https://www.orpha.net/en/disease/detail/732","names":{"fr":{"name":"Polymyosite","definition":"Myopathie inflammatoire idiopathique rare (MII) traditionnellement caractérisée par une faiblesse musculaire proximale symétrique, un taux élevé de créatine kinase (enzyme présente dans le muscle), des signes de myopathie visibles à l'électromyographie et une biopsie musculaire mettant en évidence une infiltration endomysiale principalement constituée de macrophages et de lymphocytes. Les caractéristiques ne sont pas spécifiques, il convient par conséquent d'écarter les maladies similaires présentant les caractéristiques cliniques, immunologiques et histologiques spécifiques, notamment la dermatomyosite, la myopathie nécrosante à médiation auto-immune, le syndrome des antisynthétases, la myosite à inclusions et la myosite associée à d'autres maladies du tissu conjonctif."},"de":{"name":"Polymyositis","definition":"Eine seltene idiopathische inflammatorische Myopathie (IIM), die histologisch durch eine symmetrische proximale Muskelschwäche, erhöhte Muskelenzyme (Kreatinkinase), myopathische elektromyographische Befunde und Muskelbiopsien mit endomysialer Infiltration, die hauptsächlich aus Makrophagen und Lymphozyten besteht, gekennzeichnet ist. Diese Merkmale sind unspezifisch, so dass die Erkrankung von ähnlichen Entitäten mit spezifischen klinischen, immunologischen und histologischen Merkmalen unterschieden werden muss, insbesondere von der Dermatomyositis, der immunvermittelten nekrotisierenden Myopathie, dem Anti-Synthetase-Syndrom, der Einschlusskörpermyositis und der Myositis im Zusammenhang mit anderen Bindegewebserkrankungen."},"es":{"name":"Polimiositis","definition":"Es una miopatía inflamatoria idiopática (MII) poco frecuente caracterizada históricamente por debilidad muscular proximal simétrica, elevación de las enzimas musculares (creatina cinasa), hallazgos miopáticos en la electromiografía y biopsia muscular que muestra una infiltración endomial compuesta principalmente por macrófagos y linfocitos. Las características son inespecíficas, por lo que la enfermedad debe distinguirse de entidades similares con características clínicas, inmunológicas e histológicas específicas, en particular la dermatomiositis, la miopatía necrotizante inmunomediada, el síndrome antisintetasa, la miositis por cuerpos de inclusión y la miositis asociada a otros trastornos del tejido conectivo."},"it":{"name":"Polimiosite","synonyms":["PM"]},"nl":{"name":"Polymyositis","definition":"Een zeldzame idiopathische inflammatoire myopathie (IIM), historisch gekenmerkt door symmetrische proximale spierzwakte, toename van spierenzymen (creatinekinase), myopathische bevindingen bij elektromyografie, en bevindingen van infiltratie van endomysium hoofdzakelijk bestaande uit macrofagen en lymfocyten bij spierbiopsie. De kenmerken zijn aspecifiek, dus de ziekte dient onderscheiden te worden van gelijkaardige entiteiten met specifieke klinische, immunologische en histologische kenmerken, meer bepaald dermatomyositis, immuungerelateerde necrotiserende myopathie, antisynthetase-syndroom, inclusielichaammyositis, en myositis geassocieerd met andere aandoeningen van bindweefsel."},"pt":{"name":"Polimiosite","definition":"Miopatia inflamatória idiopática rara (MII), caracterizada de forma clássica por fraqueza muscular proximal simétrica, enzimas musculares elevadas (creatina quinase), achados miopáticos na eletromiografia e biópsia muscular evidenciando infiltração endomial composta principalmente de macrófagos e linfócitos. As características são inespecíficas, portanto a doença deve ser diferenciada de patologias semelhantes com características clínicas, imunológicas e histológicas específicas, notadamente dermatomiosite, miopatia necrosante imunomediada, síndrome anti-sintetase, miosite por corpos de inclusão e miosite associada a outra doença do tecido conjuntivo."},"pl":{"name":"Zapalenie wielomięśniowe","synonyms":["PM"],"definition":"Rzadka idiopatyczna miopatia zapalna (IIM), historycznie charakteryzująca się symetrycznym osłabieniem mięśni proksymalnych, podwyższoną aktywnością enzymów mięśniowych (kinazy kreatynowej), zapisem wskazującym na patologię mięśniową w elektromiografii, zaś w biopsji mięśniowej obecnością nacieków śródmiąższowych złożonych głównie z makrofagów i limfocytów. Cechy są niespecyficzne, dlatego chorobę należy różnicować z podobnymi jednostkami chorobowymi o specyficznych cechach klinicznych, immunologicznych, histologicznych, zwłaszcza zapaleniem skórno-mięśniowym, miopatią martwiczą o podłożu immunologicznym, zespołem antysyntetazowym, wtrętowym zapaleniem mięśni oraz zapaleniem mięśni w przebiegu chorób tkanki łącznej."},"cs":{"name":"Polymyozitida","synonyms":["PM"]},"uk":{"name":"Поліміозит","definition":"A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder."},"zh":{"name":"多发性肌炎"},"tr":{"name":"Polimiyozit"}},"xrefs":[{"source":"ICD-10","code":"M33.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A41.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1157134196"},{"source":"MONDO","code":"0019127","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017285","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085655","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7425","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036102","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.585,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Argentina","status":"Validated","source":"23965482[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.2,"area":"Argentina","status":"Validated","source":"23965482[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.41,"area":"Australia","status":"Validated","source":"23981756[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.2,"area":"Australia","status":"Validated","source":"23981756[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Spain","status":"Validated","source":"18053482[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.76,"area":"Sweden","status":"Validated","source":"9137324[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-27","source":"33085276[PMID]_37329941[PMID]_36556960[PMID]_29632291[PMID]","terms":[{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012544","label":"Elevated circulating aldolase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034145","label":"Anti-alanyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034147","label":"Anti-aminoacyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034151","label":"Anti-asparaginyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034146","label":"Anti-glycyl tRNA-synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034152","label":"Anti-histidyl tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034148","label":"Anti-isoleucyl tRNA-synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034149","label":"Anti-phenylalanyl tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033713","label":"Anti-signal recognition particle antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034143","label":"Anti-threonyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034150","label":"Anti-tyrosyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031352","label":"Chest 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(29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}