Macroglossia in adult Duchenne muscular dystrophy.

and immunohistochemically proven, Duchenne muscular dystrophy of age 18, 20, and 21 respectively, with a classical Duchenne muscular dystrophy phenotype including progressive (proximal predominant) tetraparesia, joint contractures, cardiac deficit, and respiratory insufficiency. All patients showed initial calf and tongue muscle hypertrophy, and developed later generalized limb muscle atrophy in presence of persisting macroglossia (Fig. 1). The exact pathophysiology of muscle hypertrophy/pseudohyper trophy in dystrophinopathy patients is unclear (Cros et al., 1989; Jones et al., 1983).