BRAIN ATROPHY IN CONGENITAL NEUROMUSCULAR DISEASE WITH UNIFORM TYPE-1FIBERS

We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood, Ptosis and ophthalmoplegia were evi dent, in addition to facial and distal weakness, Her serum creatine ki nase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials, A muscle biopsy specimen dem onstrated absolute predominance of type 1 fibers (>98%) with no diagno stic structures, Her intelligence was borderline (IQ 80), and dilatati on of the lateral ventricles was demonstrated by cranial CT, This is t he first report of an abnormality in the central nervous system in con genital neuromuscular disease with uniform type 1 fibers. (C) 1997 by Elsevier Science Inc.