Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies

The diagnostic challenge of differentiating between inflammatory and hereditary myopathies is reflected by the relatively low specificity of the classification criteria in this study. Relevant factors leading to misdiagnosis include similarities in clinical presentation and diagnostic findings, as well as late-onset disease manifestations, e.g., in LGMD, DM1, DM2.

Authors

Silke Pauli (ORCID: https://orcid.org/0000-0002-9899-9590)
Rachel Zeng
Jens Schmidt
Kanan Hasanov
Stefanie Glaubitz

Institutions

Universitätsmedizin Göttingen (DE)
Medizinische Hochschule Brandenburg Theodor Fontane (DE)
University Hospital Carl Gustav Carus (DE)
University of Göttingen (DE)

Publication Details

Journal: Clinical and Experimental Rheumatology
Published: 2025-08-14
DOI: https://doi.org/10.55563/clinexprheumatol/pqmby3
Primary Topic: Inflammatory Myopathies and Dermatomyositis
Type: article
Field-Weighted Citation Impact: 0.00

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article

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies

Silke Pauli, Rachel Zeng, Jens Schmidt, Kanan Hasanov et al.

Aug 14, 2025

Clinical and Experimental Rheumatology

Inflammatory Myopathies and Dermatomyositis

article

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies

Silke Pauli, Rachel Zeng, Jens Schmidt, Kanan Hasanov, Stefanie Glaubitz

August 14, 2025article en

Abstract

The diagnostic challenge of differentiating between inflammatory and hereditary myopathies is reflected by the relatively low specificity of the classification criteria in this study. Relevant factors leading to misdiagnosis include similarities in clinical presentation and diagnostic findings, as well as late-onset disease manifestations, e.g., in LGMD, DM1, DM2.

Clinical and Experimental RheumatologyVol. 44(2)

Universitätsmedizin Göttingen (DE), Medizinische Hochschule Brandenburg Theodor Fontane (DE), University Hospital Carl Gustav Carus (DE), University of Göttingen (DE)

Good health and well-being

Openalex Percentile: Top 25%

Inflammatory Myopathies and Dermatomyositis

DOI Open Access PDF OpenAlex

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Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies — Silke Pauli, Rachel Zeng, et al. · Clinical and Experimental Rheumatology (2025) | TGRS Research Map | TGRS