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

UN SDGs

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

SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

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

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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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AU - Paul, Grace R.

AU - Khayat, Rami N.

AU - Kotha, Kavitha

AU - Nandi, Deipanjan

AU - Cripe, Linda

AU - Shell, Richard

PY - 2021/1

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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

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All Science Journal Classification (ASJC) codes

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