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 language | English (US) |
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Article number | 226534 |
Journal | BMJ case reports |
Volume | 2018 |
DOIs | |
State | Published - 2018 |
Keywords
- mechanical ventilation
- neuromuscular disease
- respiratory system
ASJC Scopus subject areas
- Medicine(all)