Abstract
Myopathies represent a heterogeneous group of skeletal muscle disorders characterized
by morphological and functional changes in the muscle, such as replacement of muscle
tissue by connective tissue, fatty infiltration, and/or inflammation. They can be
classified as hereditary, acquired idiopathic, and secondary myopathies.
Diagnosis of hereditary and acquired myopathies is challenging, with often overlapping
clinical and pathologic features, and it generally relies on a multimodal approach.
Current imaging modalities used in neuromuscular imaging include computed tomography,
ultrasound, and magnetic resonance imaging (MRI).
Topographical patterns of muscle involvement have been described for several myopathies,
and they can be identified using whole-body MRI. Indeed, this technique has proven
to be an invaluable tool for diagnostic work-up, guidance of muscle biopsy, and biochemical
and genetic investigation, as well as disease monitoring and follow-up.
Keywords
myopathy - neuromuscular disorder - magnetic resonance imaging - muscle