Bethlem Myopathy and the Importance of Whole-Body Magnetic Resonance Imaging in the Evaluation of Myopathies

Abstract

Bethlem myopathy is a cogenital muscular dystrophy associated with colagen VI dysfunction that courses with contractures and progressive muscle weakness. Clinical and histopathological findings may be similar to other myopathic disorders, thus making it necessary to employ alternative diagnostic tools to establish a definitive diagnosis. Recently, magnetic resonance imaging has shown promise in helping with diagnosis and follow-up of myopathic disorders and, specifically with regards to colagen-related disorders, some characteristic muscle changes may be present in such patients.

We report a case of a patient with Bethlem myopathy and describe the characteristic radiological findings specific of this disorder, thus demonstating the role of magnetic resonance imaging in the evaluation of myopathies.