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Back to basics: the respiratory management of Duchenne muscular dystrophy
  1. David J Birnkrant1,2,
  2. John C Carter3,4
  1. 1Pediatrics, MetroHealth Medical Center, Cleveland, Ohio, USA
  2. 2Department of Pediatrics, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA
  3. 3Division of Pulmonary, Critical Care, and Sleep Medicine, MetroHealth Medical Center, Cleveland, Ohio, USA
  4. 4Department of Medicine, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA
  1. Correspondence to Dr David J Birnkrant, Pediatrics, MetroHealth Medical Center, Cleveland, OH 44109, USA; dbirnkrant{at}metrohealth.org

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Duchenne muscular dystrophy (DMD) is a progressive, ultimately lethal neuromuscular disorder transmitted by X-linked inheritance. In DMD, mutations in the dystrophin gene cause an absence of dystrophin protein, harming the stability, strength and functionality of myofibres, and causing weakness in the skeletal muscles, including the muscles of respiration, in addition to cardiomyopathy.1 Pulmonary restriction worsens over time, with shallow breathing, ineffective coughing and eventual stiffness of the chest wall, atelectasis, pneumonia and respiratory failure.2 3 As a result, respiratory complications are a common cause of death, with a mean lifespan of around 20 years when the disease follows its natural course.4

By the late 1990s, investigators had shown that forced vital capacity (FVC) is a reliable way to track progressive pulmonary deterioration, and had posited three pulmonary phenotypes—typical, mild and severe.5 6 The relationship between pulmonary function and survival had been clarified; in untreated patients, median survival is only about 3 years once FVC falls below 1 L.7 John Bach had described an approach to respiratory management consisting of three key therapies: lung volume recruitment (LVR), assisted coughing and lung ventilation—which remains the basis of DMD respiratory management today.8 Care guidelines were published, based on objectified expert opinion.2 With effective respiratory management, patient survival improved and people with DMD …

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Footnotes

  • Contributors DB and JCC conducted the critical manuscript review and relevant literature review, and authored the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests DB has a financial interest in granted US and international patents and related patent applications for respiratory devices licensed to Advanced Bio Machines (ABM Respiratory Care).

  • Provenance and peer review Commissioned; externally peer reviewed.

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