title: Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Neurology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address: oranee141@gmail.com.
authors.forename: Oranee
authors.initials: O
authors.lastname: Sanmaneechai
authors.affiliation: Department of Pediatrics, Division of Neurology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Surachai
authors.initials: S
authors.lastname: Likasitwattanakul
authors.affiliation: Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Tumtip
authors.initials: T
authors.lastname: Sangruchi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005145:Face / Q000473:pathology; D006801:Humans; D008297:Male; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology*; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology*; D052097:Quadriceps Muscle / Q000473:pathology
keywords: CNMDU1; Congenital myopathy; Limitation of extraoccular muscle movement; Ptosis