Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic neuromuscular disorder with an estimated world-wide incidence of 1 in 100,000 [1]. The disease is characterised in the early stages by muscle contractures that usually become noticeable during childhood or adolescence[2], accompanied by muscle weakness and wasting that worsens over time. Almost all people with EDMD develop heart abnormalities by adolescence [3]. These typically present as atrioventricular conduction block [2,4,5], but in some cases, dilated cardiomyopathy may gradually develop, which can be further complicated by ventricular tachydysrhythmias [3,5].

Source: Neuromuscular Disorders - May 10, 2020 Category: Neurology Authors: Emily C Storey, Ian Holt, Glenn E Morris, Heidi R Fuller Source Type: research