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Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition?

Helen K Hayward-Koennecke1, Esther Werth1, Philipp O Valko1

  • 1Department of Neurology, University Hospital of Zurich, Switzerland.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|January 10, 2019
PubMed

Insights

Sleep-related rhythmic movement disorder (RMD) is common in children but rarely persists. This case study of identical triplets with RMD and cystic fibrosis suggests genetic factors may influence RMD persistence.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Sleep-related rhythmic movement disorder (RMD) is prevalent in early childhood.
  • The pathophysiology of RMD and its persistence into adulthood remain poorly understood.
  • Familial aggregation of RMD is infrequently reported.

Observation:

  • A unique case of monozygotic (identical) female triplets diagnosed with RMD is presented.
  • All three siblings exhibit body rolling as their primary RMD manifestation.
  • Concordantly, all triplets also have cystic fibrosis, sharing the F508del-CFTR gene mutation.

Findings:

  • The simultaneous occurrence and concordance of RMD in identical triplets suggest a significant genetic contribution.
  • The shared genetic background, including the F508del-CFTR mutation, may play a role in the manifestation and persistence of RMD.
  • This case provides compelling evidence for genetic factors influencing the RMD phenotype.

Implications:

  • Understanding the genetic underpinnings of RMD could lead to novel diagnostic and therapeutic strategies.
  • Further research into familial RMD cases is warranted to elucidate genetic risk factors.
  • This case highlights the complex interplay between genetic predisposition and sleep disorders.

Keywords:
familial formgenetic predispositionsleep-related rhythmic movement disorder

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