• Chest · Jan 2021

    Case Reports

    A 17-Year-Old With Becker Muscular Dystrophy and Unusual Polysomnography Findings.

    • Grace R Paul, Rami N Khayat, Kavitha Kotha, Deipanjan Nandi, Linda Cripe, and Richard Shell.
    • Division of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH. Electronic address: Grace.Paul@nationwidechildrens.org.
    • Chest. 2021 Jan 1; 159 (1): e19-e23.

    Case PresentationA 17-year-old male patient who was diagnosed with Becker muscular dystrophy (nonsense mutation [c.3822C>A] within exon 28 of the DMD gene) at 6 years of age was evaluated in the multidisciplinary neuromuscular clinic for loss of ambulation for 1 year. From a pulmonary perspective, there were no acute or chronic respiratory symptoms, and no history of pneumonia or aspiration. Clinical examination revealed a nonambulant teenager, with normal oxygen saturation and end-tidal CO2 when awake, no respiratory distress, and symmetrically diminished aeration due to obesity (BMI 40 kg/m2). Results of pulmonary function testing revealed FVC of 83% predicted with actual volume of 3.5 L and peak cough flow of 445 L/min (all within normal limits).Copyright © 2020 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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