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)
JournalBMJ Case Reports
Volume2018
DOIs
StatePublished - Nov 14 2018

Fingerprint

Congenital Myasthenic Syndromes
Hypoventilation
Sleep Apnea Syndromes
Obstructive Sleep Apnea
Mutation
Respiratory Muscles
Tracheostomy
Muscle Weakness
Receptor Protein-Tyrosine Kinases
Artificial Respiration
Intubation
Respiratory Insufficiency
Intensive Care Units
Sleep
Muscles

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 journalArticle

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