Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1.

Author: Hong Jeon KIM ¹ ; Jung Hwan OH ; Sa Yoon KANG
Author Information

1. Department of Neurology, Jeju National University School of Medicine, Jeju 63241, Korea. neurokang@jejunu.ac.kr
Publication Type:Case Report
Keywords: Atrophy; MRI; Myotonia; Myotonic dystrophy; Ophthalmoplegia
MeSH: Atrophy; Brain; Humans; Magnetic Resonance Imaging; Muscles; Myotonia; Myotonic Dystrophy*; Ophthalmoplegia; Paralysis*; Triplets
From:Experimental Neurobiology 2016;25(3):143-145
CountryRepublic of Korea
Language:English
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.