Muscle imaging in congenital myopathies

Abstract

Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle. During the past years, considerable overlap between different pathological and genetic forms of congenital myopathies has been discovered. In contrast, the pattern of involved muscles seen on muscle imaging is often more specific, providing useful additional information in the differential diagnosis of these diseases. Therefore, muscle imaging can help to target the most appropriate genetic investigations. The aim of this review is to give a comprehensive up-to-date overview of the muscle imaging findings that have recently been described in different genetic congenital myopathies.