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

Grace R. Paul; Rami N. Khayat; Kavitha Kotha; Deipanjan Nandi; Linda Cripe; Richard Shell

doi:10.1016/j.chest.2020.08.2057

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

Grace R. Paul
, Rami N. Khayat
, Kavitha Kotha
, Deipanjan Nandi
, Linda Cripe
, Richard Shell

Research output: Contribution to journal › Article › peer-review

Abstract

Case Presentation: A 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).

Original language	English (US)
Pages (from-to)	e19-e23
Journal	CHEST
Volume	159
Issue number	1
DOIs	https://doi.org/10.1016/j.chest.2020.08.2057
State	Published - Jan 2021

All Science Journal Classification (ASJC) codes

Pulmonary and Respiratory Medicine
Critical Care and Intensive Care Medicine
Cardiology and Cardiovascular Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.chest.2020.08.2057

Cite this

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title = "A 17-Year-Old With Becker Muscular Dystrophy and Unusual Polysomnography Findings",

abstract = "Case Presentation: A 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).",

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doi = "10.1016/j.chest.2020.08.2057",

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T1 - A 17-Year-Old With Becker Muscular Dystrophy and Unusual Polysomnography Findings

AU - Paul, Grace R.

AU - Khayat, Rami N.

AU - Kotha, Kavitha

AU - Nandi, Deipanjan

AU - Cripe, Linda

AU - Shell, Richard

PY - 2021/1

Y1 - 2021/1

N2 - Case Presentation: A 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).

AB - Case Presentation: A 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).

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

Abstract

All Science Journal Classification (ASJC) codes

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