Misdiagnosis Between Hereditary and Inflammatory Myopathies: A Systematic Review

Hereditary myopathies and immune mediated inflammatory myopathies are two distinct categories of muscle disease that can share overlapping clinical features and investigation findings. This can pose a challenge for diagnosticians and lead to misdiagnosis and delays to appropriate treatment. While there are individual case reports and case series that describe instances of diagnostic errors, there has not been a comprehensive review of the subject. Our aim is to systematically review the literature to identify clinical, serologic, imaging, electrophysiologic, and histopathologic features that contribute to misdiagnosis between hereditary myopathies and immune-mediated inflammatory myopathies. The primary outcome of this review is to identify and characterize the factors that contribute to diagnostic misclassification between these etiologies with the ultimate goal of helping clinicians improve diagnostic accuracy.