{"orpha":592,"name":"Macrophagic myofasciitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MMF"],"definition":"A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-592/","orphanet_url":"https://www.orpha.net/en/disease/detail/592","names":{"fr":{"name":"Myofasciite à macrophages","synonyms":["MFM","MMF"],"definition":"Maladie acquise du muscle squelettique rare, caractérisée par une infiltration de l'épimysium, du périmysium et de l'endomysium périfasciculaire par des macrophages et des inclusions cristallines composées de sels d'aluminium au point d'injection d'un vaccin (le plus souvent le muscle deltoïde), en l'absence de nécrose musculaire. Les patients peuvent présenter des myalgies, des arthralgies, une faiblesse musculaire, une fatigue chronique, une asthénie, de la fièvre et des troubles cognitifs. Les signes et les symptômes se développent généralement de manière progressive, sur plusieurs mois."},"de":{"name":"Makrophagische Myofasziitis","synonyms":["MMF"],"definition":"Eine seltene, erworbene Skelettmuskelerkrankung, die durch eine Infiltration des Epimysiums, Perimysiums und perifaszikulären Endomysiums durch Makrophagen mit kristallinen Einschlüssen von Aluminiumsalzen an der Stelle einer früheren Impfung (meist im Deltamuskel) gekennzeichnet ist. Muskelnekrosen treten in der Regel nicht auf. Die Patienten können über Myalgien, Arthralgien, Muskelschwäche, chronische Müdigkeit, Asthenie, Fieber und kognitive Dysfunktion klagen. Die Anzeichen und Symptome entwickeln sich in der Regel langsam über mehrere Monate."},"es":{"name":"Miofascitis macrofágica","definition":"Es una enfermedad poco frecuente adquirida del músculo esquelético caracterizada por la infiltración del epimisio, el perimisio y el endomisio perifascicular por macrófagos con inclusiones cristalinas compuestas de sales de aluminio localizadas en el sitio de inyección de una vacuna (más comúnmente el músculo deltoides). La necrosis muscular suele estar ausente. Los pacientes pueden presentar mialgias, artralgias, debilidad muscular, fatiga crónica, astenia, fiebre y disfunción cognitiva. Los signos y síntomas suelen desarrollarse lentamente durante varios meses."},"it":{"name":"Miofascite macrofagica","synonyms":["MMF","Sindrome autoimmune/infiammatoria indotta da granuloma persistente da alluminio"],"definition":"Si tratta di una malattia muscoloscheletrica rara acquisita, caratterizzata dall'infiltrazione dell'epimisio, del perimisio e dell'endomisio perifascicolare da parte di macrofagi con inclusioni cristalline composte da sali di alluminio nel sito di una precedente vaccinazione (in genere il muscolo deltoide). Di solito non si associa a necrosi del muscolo. I pazienti possono presentare mialgia, artralgia, debolezza muscolare, affaticamento cronico, astenia, febbre e disfunzione cognitiva. I sintomi di solito si sviluppano lentamente nell'arco di diversi mesi."},"nl":{"name":"Macrofagische myofasciitis","synonyms":["MMF"],"definition":"Een zeldzame verworven aandoening van skeletspier, gekenmerkt door infiltratie van epimysium, perimysium, en perifasciculair endomysium door macrofagen met kristallijne inclusies bestaande uit aluminiumzouten op de plaats van een eerdere vaccinatie (meestal musculus deltoideus). Necrose van spier is doorgaans afwezig. Patiënten kunnen zich presenteren met myalgie, artralgie, spierzwakte, chronische vermoeidheid, asthenie, koorts, en cognitieve disfunctie. Verschijnselen en symptomen ontwikkelen meestal traag gedurende meerdere maanden."},"pt":{"name":"Miofasceíte macrofágica","definition":"Doença rara e adquirida do músculo esquelético caracterizada por infiltração do epimísio, perimísio e endomísio perifascicular por macrófagos com inclusões de cristais compostos de sais de alumínio no local de uma vacinação prévia (habitualmente o músculo deltóide). A necrose muscular geralmente está ausente. Os doentes podem apresentar mialgias, artralgias, fraqueza muscular, fadiga crónica, astenia, febre e disfunção cognitiva. Os sinais e sintomas geralmente desenvolvem-se lentamente ao longo de vários meses."},"pl":{"name":"Makrofagowe zapalenie powięzi i mięśni","synonyms":["MMF","Zespół autozapalenia/zespół zapalny indukowany adjuwantem z przetrwałego ziarniniaka aluminiowego"]},"cs":{"name":"Makrofagická myofasciitida","synonyms":["MMF","Autoimunní/zánětlivé onemocnění indukované adjuvancií s perzistujícími hliníkovými granulomaty"]},"uk":{"name":"Макрофагальний міофасцит","synonyms":["MMF"],"definition":"A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months."},"zh":{"name":"巨噬细胞肌筋膜炎","synonyms":["MMF"]},"tr":{"name":"Makrofajik miyofasit","synonyms":["MMF"]}},"xrefs":[{"source":"ICD-10","code":"M60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018942","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537829","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931639","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"176","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206638,"name":"Acquired skeletal muscle disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}