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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.
Figure 1Note the elongated face, temporal wasting, temporal baldness, and mild bilateral ptosis.
(The color version of this figure is available in the online edition.)
Figure 2Grip myotonia showing delayed relaxation of the grip after forceful muscle contraction.
The video corresponding to this figure can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.024. (The color version of this figure is available in the online edition.)
Figure 3Muscle percussion with a reflex hammer by tapping the thenar eminence produced an
involuntary muscle contraction with a delay in relaxation. The video corresponding
to this figure can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.024. (The color version of this figure is available in the online edition.)
