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  • the Korean Society for Brain and Neural Sciences

Article

Case Report

Exp Neurobiol 2016; 25(3): 143-145

Published online June 30, 2016

https://doi.org/10.5607/en.2016.25.3.143

© The Korean Society for Brain and Neural Sciences

Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1

Hong-Jeon Kim, Jung-Hwan Oh and Sa-Yoon Kang*

Department of Neurology, Jeju National University School of Medicine, Jeju 63241, Korea

Correspondence to: *To whom correspondence should be addressed.
TEL: 82-64-754-8175, FAX: 82-64-717-1630
e-mail: neurokang@jejunu.ac.kr

Received: March 24, 2016; Revised: May 13, 2016; Accepted: May 15, 2016

Abstract

Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1.

Keywords: Atrophy, MRI, Myotonia, Myotonic dystrophy, Ophthalmoplegia