Distal myopathies: Role of MRI in the diagnostic work-up  

Distal myopathies are a diagnostically challenging group of diseases. Here, the authors aimed to understand the value of MRI in the current clinical setting and explore the potential for optimisingits clinical application. They retrospectively audited the diagnostic workup in a distal myopathy patient cohort, reassessing the diagnosis, whilst documenting the usage of MRI. A literature based distal myopathies MRI pattern template was established and its diagnostic utility in terms of sensitivity, specificity, and potential impact on the diagnostic workup was assessed. The results showed that the application of muscle MRI can be useful for targeting the best muscle to biopsy, guide the genetic testing, interpret complex genetic results obtained by next generation sequencing (NGS) and help avoiding misdiagnosis (IBM).

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Bugiardini E, Morrow JM, Shah S, et al. The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. Front Neurol. 2018 Jun 26;9:456.