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

Summary

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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