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Title: Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber
Authors: Oranee Sanmaneechai
Surachai Likasitwattanakul
Tumtip Sangruchi
Ichizo Nishino
Mahidol University
National Institute of Neuroscience, Kodaira
Keywords: Medicine
Issue Date: 1-Apr-2015
Citation: Brain and Development. Vol.37, No.4 (2015), 459-462
Abstract: © 2014 The Japanese Society of Child Neurology. Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare type of congenital myopathy. It is characterized by early onset of symptoms, mild proximal muscle weakness, hyporeflexia or areflexia, normal serum creatine kinase (CK) levels and myopathic electromyography finding, uniform type 1 fibers, and nonprogression. We report a 2-year-old boy who presented with congenital hypotonia, breathing and feeding difficulty, myopathic facies, proximal muscle weakness, ptosis, total external ophthalmoplegia and delayed motor developmental milestones. Normal serum muscle enzyme and short duration of motor unit potentials on electromyography were noted. Muscle biopsy showed uniformity of type 1 fibers (greater than 99%) and moderate variation in fiber size without specific structural abnormality. Total external ophthalmoplegia may be one of the important clinical manifestations of CNMDU1. It is important to recognize this disorder because it is nonprogressive in nature.
ISSN: 18727131
Appears in Collections:Scopus 2011-2015

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