DESMIN MYOPATHY - A MULTISYSTEM DISORDER INVOLVING SKELETAL, CARDIAC,AND SMOOTH-MUSCLE

Myopathy associated with desmin-type intermediate filaments is an unco mmon disorder of skeletal and/or cardiac muscle. The present study foc uses on a 28-year-old man with generalized muscular atrophy, cardiomyo pathy, and intestinal malabsorption and pseudoobstruction. Abundant sa rcoplasmic granular and filamentous aggregates that were ultrastructur ally continuous with Z lines or dense bodies and exhibited intense imm unostaining for desmin were present throughout the skeletal musculatur e, myocardium, and smooth muscle of the intestine, Moreover, neurofila ment-immunoreactive axonal spheroids were identified in the spinal cor d and roots. These widely distributed findings illustrate the multisys temic character of desmin myopathy, which in this instance first adds intestinal smooth muscle involvement to its already known skeletal and cardiac muscle manifestations. The additional presence of neurofilame nt aggregates in the spinal cord and roots constitutes an extremely ra re conjunction of intermediate filament pathology of the neuromuscular system. Copyright (C) 1995 by W,B, Saunders Company