Abstract
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint contracture and cardiomyopathy with rhythm disorders and conduction abnormalities. Cardiovascular complications and life-threatening arrhythmias are the main cause of death in such patients at a young age. Depending on the leading symptoms and family history, patients are under the care of different specialists. Unfortunately, neurologists, cardiologists, cardio surgeons and orthopedics are not well informed about this rare condition and thus the disease tends to be not diagnosed in time. This article examines the data of epidemiology, pathophysiology, features of the course, diagnosis, approaches to the management of cardiovascular pathology in progressive Emery-Dreyfus muscular dystrophy with the development of LMNA cardiomyopathy. A clinical case of this disease is also given.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.