Neurológia pre prax 5/2024

Severity of cardiac involvement in Emery‑ Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) belongs to a rare genetic diseases with disturbances of the genes encoding nuclear membrane proteins. Neurological symptoms are less pronounced and not too limiting for EDMD patients; however, dominant cardiac symptoms with conduction impairment (AV block, atrial arrhythmias) and/or cardiomyopathy are the most serious manifestations of EDMD. We present 10 patients with EDMD, pointing out the variability and severity of cardiac problems, including long-term medical care within the approach of the multidisciplinary medical team.

Keywords: muscle dystrophy, muscle contractures, cardiac arrhythmias, cardiomyopathy