The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

Background and aims: The role of muscle magnetic resonance imaging (MRI) in the diagnostic procedures of myopathies is still controversially discussed. The current study was designed to analyze the status of qualitative muscle MRI, electromyography (EMG), and muscle biopsy in different cases of clinically suspected myopathy. Methods: A total of 191 patients (male: n = 112, female: n = 79) with suspected myopathy who all received muscle MRI, EMG, and muscle biopsy for diagnostic reasons were studied, with the same location of biopsy and muscle MRI (either upper or lower extremities or paravertebral muscles). Muscle MRIs were analyzed using standard rating protocols by two different raters independently. Results: Diagnostic findings according to biopsy results and genetic testing were as follow: non-inflammatory myopathy: n = 65, inflammatory myopathy (myositis): n = 51, neurogenic: n = 18, unspecific: n = 23, and normal: n = 34. The majority of patients showed myopathic changes in the EMG. Edema, atrophy, muscle fatty replacement, and contrast medium enhancement (CM uptake) in MRI were observed across all final diagnostic groups. Only 30% of patients from the myositis group (n = 15) showed CM uptake. Discussion and conclusion: The study provides guidance in the definition of the impact of muscle MRI in suspected myopathy: despite being an important diagnostic tool, qualitative MRI findings could not distinguish different types of neuromuscular diagnostic groups in comparison with the gold standard histopathologic diagnosis and/or genetic testing. The results suggest that neither muscle edema nor gadolinium enhancement are able to secure a diagnosis of myositis. The current results do not support qualitative MRI as aiding in the diagnostic distinction of various myopathies. Quantitative muscle MRI is, however, useful in the diagnostic procedure of a suspected neuromuscular disease, especially with regard to assessing progression of a chronic myopathy by quantification of the degree of atrophy and fatty replacement and in exploring patterns of muscle group involvements in certain genetic myopathies.

Automated summary

This study aimed to analyze the efficacy of muscle MRI, EMG, and muscle biopsy in diagnosing suspected myopathy patients. The results showed that qualitative muscle MRI could not differentiate between different types of neuromuscular diagnostic groups, while quantitative muscle MRI was useful in assessing disease progression and exploring patterns of muscle group involvements in certain genetic myopathies.