Ultrastructure of muscle in fetal Duchenne's dystrophy

Skeletal muscle was studied from two male fetuses with Duchenne's muscular dystrophy (DMD) that were at 17 and 23 weeks' gestational age, respectively. In comparison with the ultrastructure of normal fetal muscle, a spectrum of changes could be seen, from normal-appearing to very degenerated fibers. The changes followed an apparent progression from early actin filament disruption and fraying of the Z bands to progressive disorganization of myofibrillar alignment, increasing vacuolization, and condensation of fibers. Significant plasma membrane defects were not found. These findings are similar to those described in older persons with DMD and confirm that DMD is a congenital disorder associated with consistent skeletal muscle changes in utero.