Inflammatory myopathies

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies

Clin Exp RheumatolPublished Diagnostic accuracy study

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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