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) |
|---|---|
| Journal | BMJ Case Reports |
| Volume | 2018 |
| DOIs | |
| State | Published - Nov 14 2018 |
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Keywords
- mechanical ventilation
- neuromuscular disease
- respiratory system
ASJC Scopus subject areas
- Medicine(all)
Cite this
Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome. / Younas, Haris; Roda, Ricardo; Jun, Jonathan.
In: BMJ Case Reports, Vol. 2018, 14.11.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome
AU - Younas, Haris
AU - Roda, Ricardo
AU - Jun, Jonathan
PY - 2018/11/14
Y1 - 2018/11/14
N2 - 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.
AB - 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.
KW - mechanical ventilation
KW - neuromuscular disease
KW - respiratory system
UR - http://www.scopus.com/inward/record.url?scp=85056638314&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85056638314&partnerID=8YFLogxK
U2 - 10.1136/bcr-2018-226534
DO - 10.1136/bcr-2018-226534
M3 - Article
C2 - 30429133
AN - SCOPUS:85056638314
VL - 2018
JO - BMJ Case Reports
JF - BMJ Case Reports
SN - 1757-790X
ER -