Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome

Haris Younas, Ricardo Roda, Jonathan Jun

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Article number226534
JournalBMJ case reports
Volume2018
DOIs
StatePublished - Jan 1 2018

Keywords

  • mechanical ventilation
  • neuromuscular disease
  • respiratory system

ASJC Scopus subject areas

  • Medicine(all)

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