Publication: Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber
Issued Date
2015-04-01
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ISSN
18727131
03877604
03877604
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2-s2.0-84924853628
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Mahidol University
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SCOPUS
Bibliographic Citation
Brain and Development. Vol.37, No.4 (2015), 459-462
Suggested Citation
Oranee Sanmaneechai, Surachai Likasitwattanakul, Tumtip Sangruchi, Ichizo Nishino Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber. Brain and Development. Vol.37, No.4 (2015), 459-462. doi:10.1016/j.braindev.2014.07.009 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/36478
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Title
Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber
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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.