Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies
Authors' conclusion
The diagnostic challenge of differentiating between inflammatory and hereditary myopathies is reflected by the relatively low specificity of the classification criteria in this study.
Study context
- Population
- Patients with genetically confirmed hereditary myopathies (DM1, DM2, FSHD, limb girdle muscular dystrophy (LGMD), DMD, BMD); 2017 EULAR/ACR classification criteria for IIM tested
- Participants
- 105 patients
- Comparison
- DM1 vs DM2 vs FSHD vs LGMD vs BMD vs DMD
- Outcome
- Accuracy (specificity) of the 2017 EULAR/ACR criteria in distinguishing myositis from hereditary myopathies
Methodological detailsretrospective
- Retrospective
Performance
As reported in the abstract
Misclassified as possible, probable or definite myositis by 2017 EULAR/ACR criteria
- Overall specificity
- 63.8%
Further findings
Most frequent proposed myositis subtype in misclassified cases
- Inclusion body myositis
Misleading criteria items
- Proximal muscle weakness, increased CK, perifascicular atrophy and endomysial infiltration in muscle biopsy particularly misleading
Original publication
Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies. Clin Exp Rheumatol. Published 14 August 2025. doi:10. 55563/ clinexprheumatol/ pqmby3
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