Emery–Dreifuss muscular dystrophy

Abstract dystrophy (EMD) is an inherited disorder characterized by early onset contractures, progressive weakness in humero-peroneal muscles, and car- diomyopathy with conduction block. The disease may have been described for the first time in 1902 (Cestan and Lejonne 1902). However, in 1966, Emery examined a large Virginian family affected with an X-linked muscular dystrophy (Emery and Dreifuss 1966) whose members had been reported earlier by Dreifuss and Hogan (1961) as having a possible benign form of Duchenne muscular dystrophy (DMD). and intellectual impairment (Emery 1989; Emery and Dreifuss 1966; Emery and Emery 1995). Similar symptoms were later described in other families and in 1979 Rowland suggested the term ‘Emery–Dreifuss muscular dystrophy (EMD)’ for this distinctive disease (Rowland et al. 1979).