Muscular Dystrophies: Key Elements for Everyday Diagnosis and Management

Abstract

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophinopathies including Duchenne (DMD) and Becker (BMD) muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.

Imaging in Rare Disease: A Roadmap for Diagnosis

“…[1][2][3] To this purpose, we invited a group of specialists for each disease and imaging modality to describe their day-by-day clinical experience with rare cardiomyopathies, highlighting the advantages but also the limitations of these techniques. Copyright of Cardiogenetics is the property of PAGEPress and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission.…”