EMERY-DREIFUSS MUSCULAR-DYSTROPHY WITH UNUSUAL FEATURES

Two families with Emery-Dreifuss muscular dystrophy (EMD) are describe d. Several unusual features for EMD are emphasized. One of the patient s had severe neuromuscular disability with inability to walk during ea rly childhood. This patient also had mild bifacial paresis. His brothe rs had the typical slow progression of EMD. In some of the patients, m uscle weakness distribution was more widespread than has usually been reported, with prominent involvement of finger extensors. It is sugges ted that there is a wide phenotypic spectrum in EMD. In both families, the disease segregated with markers spanning the EMD locus in Xq28. ( C) 1993 John Wiley & Sons, Inc.