Immune-mediated necrotizing myopathy
Synonyms: AINM · Autoimmune necrotizing myositis · IMNM · NAM · Necrotizing autoimmune myositis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune-mediated necrotizing myopathy | AINM · Autoimmune necrotizing myositis · IMNM · NAM · Necrotizing autoimmune myositis |
| fr | Myopathie nécrosante à médiation auto-immune | Myosite nécrosante auto-immune |
| de | Immunvermittelte nekrotisierende Myopathie | Autoimmune nekrotisierende Myositis · IMNM · INM · NAM · Nekrotisierende Myopathie, autoimmune |
| es | Miopatía necrosante inmunomediada | AINM · IMNM · MNA · Miositis necrosante autoinmune · NAM |
| it | Miopatia necrotizzante immunomediata | Miopatia necrotizzante autoimmune · AINM · IMNM · Miosite necrotizzante autoimmune · NAM |
| nl | Immuungemedieerde necrotiserende myopathie | AINM · Auto-immune necrotiserende myositis · IMNM · NAM · Necrotiserende auto-immune myositis |
| pt | Miopatia necrotizante imunomediada | |
| pl | Miopatia martwicza o podłożu immunologicznym | NAM · IMNM · Miopatia anty-SRP · Miopatia anty-HMG-CoA · Autoimmunologiczne martwicze zapalenie mięsni · Miopatia immunologiczna z martwicą miocytów |
| cs | Autoimunní nekrotizující myopatie | Anti-HMG-CoA myopatie · Anti-SRP myopatie · Autoimunitní nekrotizující myozitida · NAM · Imunitně mediovaná nekrotizující myopatie |
| uk | Імуноопосередкована некротизуюча міопатія | Анти-HMG-КоА міопатія · Анти-SRP міопатія · Аутоімунний некротизуючий міозит · Імунна міопатія з некрозом міоцитів · IMNM · NAM |
| zh | 免疫介导的坏死性肌病 | 免疫性肌病伴肌细胞坏死 |
| tr | Bağışıklık aracılı nekrotizan miyopati | NAM · IMNM · Anti-SRP miyopatisi · Anti-HMG-CoA miyopatisi · Otoimmün nekrotizan miyozit · Miyosit nekrozu ile seyreden immün miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G72.4 | NTBT | attributed | validated |
| MONDO | 0016098 | E | validated | |
| UMLS | C3267047 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98482Idiopathic inflammatory myopathy
rare neurological diseases; rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
24 annotations · validated 2021-03-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0003713 | Muscle fiber necrosis | |
| HP:0003198 | Myopathy | |
| Frequent (79-30%) | ||
| HP:0033708 | Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity | |
| HP:0033713 | Anti-signal recognition particle antibody positivity | |
| HP:0002015 | Dysphagia | |
| HP:0003326 | Myalgia | |
| HP:0100614 | Myositis | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0003327 | Axial muscle weakness | |
| HP:0100749 | Chest pain | |
| HP:0012819 | Myocarditis | |
| HP:0002664 | Neoplasm | |
| HP:0001962 | Palpitations | |
| HP:0003691 | Scapular winging | |
| Very rare (<4-1%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001635 | Congestive heart failure | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0000988 | Skin rash | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30639649[PMID]_29582188[PMID]_33093664[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206569
- This record as JSON: /data/d/206569.json