Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies

J Clin Sleep Med. 2017 Sep 15;13(9):1105-1108. doi: 10.5664/jcsm.6734.

Abstract

Selenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene (SEPN1) mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered breathing (SDB) may occur in young patients with SEPN1-RM who are still able to walk. We report the cases of two children with SEPN1-RM who presented with SDB at the ages of 7 and 12 years and for whom long-term nocturnal noninvasive ventilation yielded significant improvement. Based on literature review and our current cases, it seems that there is no obvious relationship between the time since SDB onset and outcome of pulmonary function tests or limb muscle weakness. We therefore suggest that SDB should be systematically screened for in patients with SEPN1-RM, at regular intervals using nocturnal polysomnography.

Keywords: congenital muscular dystrophy; noninvasive ventilation; polysomnography; respiratory insufficiency; selenoprotein; selenoprotein N1-related myopathies; sleep apnea syndrome; sleep-disordered breathing.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Muscular Diseases / complications*
  • Muscular Diseases / genetics
  • Mutation / genetics
  • Noninvasive Ventilation / methods*
  • Polysomnography / statistics & numerical data
  • Selenoproteins / deficiency*
  • Selenoproteins / genetics
  • Sleep Apnea Syndromes / etiology*
  • Sleep Apnea Syndromes / therapy*

Substances

  • Muscle Proteins
  • SELENON protein, human
  • Selenoproteins