{"orpha":206569,"name":"Immune-mediated necrotizing myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AINM","Autoimmune necrotizing myositis","IMNM","NAM","Necrotizing autoimmune myositis"],"definition":"A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206569/","orphanet_url":"https://www.orpha.net/en/disease/detail/206569","names":{"fr":{"name":"Myopathie nécrosante à médiation auto-immune","synonyms":["Myosite nécrosante auto-immune"],"definition":"Forme rare de myopathie inflammatoire idiopathique caractérisée par une faiblesse musculaire proximale aiguë ou subaiguë, sévère et symétrique, généralement associée à des anticorps spécifiques aux muscles (anti-HMGCR ou anti-SRP). Les caractéristiques histopathologiques sont la nécrose et la régénération des myocytes sans inflammation significative, et le dépôt de C5b-9 sur les myofibres non nécrosées."},"de":{"name":"Immunvermittelte nekrotisierende Myopathie","synonyms":["Autoimmune nekrotisierende Myositis","IMNM","INM","NAM","Nekrotisierende Myopathie, autoimmune"],"definition":"Eine seltene Form der idiopathischen entzündlichen Myopathie, die durch eine akute oder subakute, schwere, symmetrische, proximale Muskelschwäche gekennzeichnet ist, die gewöhnlich mit muskelspezifischen Antikörpern (Anti-HMGCR oder Anti-SRP) einhergeht. Zu den histopathologischen Merkmalen gehören Myozytennekrose und -regeneration ohne signifikante Entzündung sowie C5b-9-Ablagerungen auf nicht-nekrotischen Myofasern."},"es":{"name":"Miopatía necrosante inmunomediada","synonyms":["AINM","IMNM","MNA","Miositis necrosante autoinmune","NAM"],"definition":"Es una forma de miopatía inflamatoria idiopática poco frecuente caracterizada por debilidad muscular proximal, simétrica, aguda o subaguda y grave, por lo general asociada a anticuerpos musculares específicos (anti-HMGCR o anti-SRP). Los hallazgos histopatológicos incluyen necrosis y regeneración de los miocitos sin una inflamación significativa y con depósitos de C5b-9 en las miofibras no necróticas."},"it":{"name":"Miopatia necrotizzante immunomediata","synonyms":["Miopatia necrotizzante autoimmune","AINM","IMNM","Miosite necrotizzante autoimmune","NAM"],"definition":"La miopatia necrotizzante immuno-mediata (IMNM) è una forma rara di miopatia infiammatoria idiopatica, caratterizzata da debolezza dei muscoli prossimali, acuta o subacuta, grave e simmetrica, di solito associata ad anticorpi specifici per i muscoli (anti-HMGCR o anti-SRP). L'esame istopatologico evidenzia necrosi e rigenerazione dei miociti, in assenza di infiammazione significativa, e depositi di C5b-9 sulle miofibre non necrotiche."},"nl":{"name":"Immuungemedieerde necrotiserende myopathie","synonyms":["AINM","Auto-immune necrotiserende myositis","IMNM","NAM","Necrotiserende auto-immune myositis"],"definition":"Een zeldzame vorm van idiopathische inflammatoire myopathie, gekenmerkt door acute of subacute, ernstige, symmetrische, proximale spierzwakte, meestal geassocieerd met spierspecifieke antilichamen (anti-HMGCR of anti-SRP). Histopathologische kenmerken zijn onder meer necrose en regeneratie van myocyten zonder significante inflammatie, en depositie van C5b-9 op niet-necrotische spiervezels."},"pt":{"name":"Miopatia necrotizante imunomediada"},"pl":{"name":"Miopatia martwicza o podłożu immunologicznym","synonyms":["NAM","IMNM","Miopatia anty-SRP","Miopatia anty-HMG-CoA","Autoimmunologiczne martwicze zapalenie mięsni","Miopatia immunologiczna z martwicą miocytów"]},"cs":{"name":"Autoimunní nekrotizující myopatie","synonyms":["Anti-HMG-CoA myopatie","Anti-SRP myopatie","Autoimunitní nekrotizující myozitida","NAM","Imunitně mediovaná nekrotizující myopatie"]},"uk":{"name":"Імуноопосередкована некротизуюча міопатія","synonyms":["Анти-HMG-КоА міопатія","Анти-SRP міопатія","Аутоімунний некротизуючий міозит","Імунна міопатія з некрозом міоцитів","IMNM","NAM"],"definition":"A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers."},"zh":{"name":"免疫介导的坏死性肌病","synonyms":["免疫性肌病伴肌细胞坏死"],"definition":"坏死性自身免疫性肌病（NAM）是一种罕见的特发性炎症性肌病，其主要临床表现为急性或亚急性近端肌无力，组织病理学表现为心肌细胞坏死和再生，无明显炎症反应。"},"tr":{"name":"Bağışıklık aracılı nekrotizan miyopati","synonyms":["NAM","IMNM","Anti-SRP miyopatisi","Anti-HMG-CoA miyopatisi","Otoimmün nekrotizan miyozit","Miyosit nekrozu ile seyreden immün miyopati"]}},"xrefs":[{"source":"ICD-10","code":"G72.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016098","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3267047","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-18","source":"30639649[PMID]_29582188[PMID]_33093664[PMID]","terms":[{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","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:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003713","label":"Muscle fiber necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033708","label":"Anti-3-hydroxy- 3-methylglutaryl-coA reductase 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:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very rare (<4-1%)","criteria":null}]}}