Emery-Dreifuss Muscular Dystrophy (EDMD)

Emery-Dreifuss muscular dystrophy (EDMD) is a muscular dystrophy disorder characterized by a clinical triad of muscular weakness, joint contractures, and cardiac anomalies. EDMD is a genetically heterogeneous disease with various hereditary patterns (Heller et al. 2020). The condition was first described by Emery and Dreifuss in 1966, which would later assume their name (Emery 2000). The overall prevalence of EDMD was found to be 0.39 cases per 100,000 based on a meta-analysis with a significant diversity of populations under study (Mah et al. 2016). Clinical manifestations in different subtypes are primarily similar (Bonne et al. 1993). The condition arises from defects in proteins covering the nuclear envelope, the most common ones being lamin and emerin. The two most prevalent forms are X-linked, which the disease was historically known for and the autosomal dominant form (Muchir and Worman 2019) (Figs. 1 and 2).