inclusion body myositis
Findings
No curated finding names inclusion body myositis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.
Definition from the Mondo Disease Ontology (MONDO:0007827), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal muscle fiber morphologyHPOHP:0004303
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Inflammatory myopathyHPOHP:0009071
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% of cases)
- Quadriceps muscle weaknessHPOHP:0003731
- Very frequent (80% to 99% of cases)
- Ragged-red muscle fibersHPOHP:0003200
- Very frequent (80% to 99% of cases)
- Rimmed vacuolesHPOHP:0003805
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Anti-cytosolic-5-nucleotidase-1A antibody positivityHPOHP:0034153
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
Show the remaining 2
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TARDBPHGNC:11571
- Limited · Broad Center for Mendelian Genomics · Autosomal dominant · 2023
Where it sits
- A kind of
- Narrower terms (2)
Other names
3 names
Resolves to: inclusion body myositis
- Also called
- IBMsIBMSporadic Inclusion Body Myositis