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Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome
  1. Haris Younas1,
  2. Ricardo Roda2,
  3. Jonathan Jun2
  1. 1School of Medicine, Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA
  2. 2Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA
  1. Correspondence to Dr Haris Younas, harisyounas254{at}


In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase (MuSK, c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hypercapnic respiratory failure. In the intensive care unit, he required intubation followed by tracheostomy which resolved obstructive sleep apnoea. Later, due to persistent sleep-associated hypoventilation, he required nocturnal mechanical ventilation. His case illustrates how respiratory muscle weakness due to mutations in MuSK can lead to various forms of sleep disordered breathing.

  • mechanical ventilation
  • respiratory system
  • neuromuscular disease

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  • Contributors HY and JJ drafted the case report. RR provided substantial contributions and critically evaluated the draft. HY performed the statistical analysis. All authors approved the final version of the content. HY agreed to be accountable for all aspects of the case report. HY ensures that all questions related to the accuracy or integrity of any part of the case report will be appropriately investigated and resolved.

  • 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 None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.