X-linked Emery-Dreifuss muscle dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

Emery-Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy [1]. EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) [2], or mutations in LMNA gene encoding lamins A and C in autosomal dominant and recessive forms [3]. EDMD clinical presentation includes the classical triad of symptoms with early joint contractures involving Achilles, elbows and the neck tendons, progressive muscle weakness and wasting beginning in the humero and peroneal regions, and cardiac disease combining cardiac arrhythmias, conduction defects and cardiomyopathy [4,5].

Source: Neuromuscular Disorders - June 18, 2019 Category: Neurology Authors: Marion Brisset, Rabah Ben Yaou, Robert-Yves Carlier, Anais Chanut, Guillaume Nicolas, Norma B. Romero, Karim Wahbi, Camille Decrocq, France Leturcq, Pascal Lafor êt, Edoardo Malfatti Tags: Case report Source Type: research