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

Mathilde Viprey1,2, Ha Trang3, Michaël Pomedio1

  • 1Centre de Référence des Maladies Neuromusculaires Grand Est (CERNEST), American Memorial Hospital, Reims, France.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|June 1, 2017
PubMed

Insights

Sleep-disordered breathing (SDB) can affect young patients with Selenoprotein-related myopathy (SEPN1-RM). Early screening and noninvasive ventilation significantly improve outcomes for these children.

Area of Science:

  • Neurology
  • Genetics
  • Pulmonology

Background:

  • Selenoprotein-related myopathy (SEPN1-RM) is a rare congenital muscular dystrophy.
  • Mutations in the selenoprotein N1 gene (SEPN1) cause SEPN1-RM, identified in 2001.

Observation:

  • Sleep-disordered breathing (SDB) can manifest in ambulatory SEPN1-RM patients.
  • Two pediatric cases presented with SDB at ages 7 and 12.

Findings:

  • Long-term nocturnal noninvasive ventilation provided significant clinical improvement.
  • No clear correlation exists between SDB onset duration and pulmonary or limb muscle function.

Implications:

  • Systematic screening for SDB using polysomnography is recommended for all SEPN1-RM patients.
  • Regular SDB monitoring is crucial for managing SEPN1-RM, regardless of disease duration.

Keywords:
congenital muscular dystrophynoninvasive ventilationpolysomnographyrespiratory insufficiencyselenoproteinselenoprotein N1-related myopathiessleep apnea syndromesleep-disordered breathing

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