This 19-year-old male underwent an elective faciomaxillary surgical procedure because of maxillary sagittal and vertical hypoplasia. The postoperative period was complicated by severe oropharyngeal dysfunction with aspiration followed by gastrostomy-tube insertion. He had long-standing history of nasal dysarthria and had intermittent coughing while swallowing. His father had hemochromatosis, but there was no family history of neuromuscular disorders. Examination revealed characteristic facies (Fig 1) and diagnostic clinical signs (Figure 2, Figure 3 and Videos 1 & 2). He had bilateral facial weakness, nasal dysarthria, neck weakness, and hand weakness without proximal limb weakness. Genetic testing revealed 376 CTG repeats (normal 5-37 repeats) in the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19, confirming the diagnosis of myotonic dystrophy type 1.
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Published online: January 07, 2016
Dr. Partha S. Ghosh reports no disclosure.
Patient consent was obtained for the photograph and videos.
© 2016 Elsevier Inc. Published by Elsevier Inc. All rights reserved.