Diagnostic Algorithms and Differential Diagnosis

Abstract

The aim of this chapter is to provide algorithms based on muscle imaging findings that might be of help for scheduling appropriate genetic testing in patients presenting with clinical and histopathological features consistent with a congenital myopathy, limb-girdle myopathy, or myofibrillar myopathy. As whole-body muscle imaging data are not yet available for most hereditary myopathies, we have used data dealing with imaging findings in the thighs and lower legs. With increasing use of whole body MRI protocols, we can expect extended involvement patterns to be described in the near future. In addition to imaging findings we include valuable clinical data that can be used to distinguish these genetic disorders.