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Periodic limb movements during sleep in Lesch-Nyhan syndrome

Yoshiaki Saito1, Noriko Sumitomo2, Takashi Saito2

  • 1Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Tokyo, Japan.

Brain & Development
|June 12, 2026
PubMed

Insights

Periodic limb movements during sleep (PLMS) in children with Lesch-Nyhan syndrome (LNS) involve repetitive limb movements before self-injurious behaviors (SIB). These movements may stem from impaired spinal sensory gating due to dopamine system dysfunction.

Area of Science:

  • Neurology
  • Pediatrics
  • Sleep Medicine

Background:

  • Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by neurological and behavioral abnormalities.
  • Self-injurious behaviors (SIB) are a hallmark of LNS, but their underlying mechanisms are not fully understood.

Purpose of the Study:

  • To investigate and characterize periodic limb movements during sleep (PLMS) in children diagnosed with LNS.
  • To explore the potential relationship between PLMS and the development of SIB in LNS.

Main Methods:

  • Study included three pediatric subjects with LNS, aged 2 to 7 years.
  • PLMS diagnosis was based on clinical observation in one child and polysomnography (PSG) in two.
  • Detailed analysis of movement patterns, duration, and sleep stage distribution was performed.

Main Results:

  • Repetitive, clustered limb movements (flexion or flexion-extension) were observed in all subjects between 1 and 5 years of age, preceding SIB.
  • Polysomnography confirmed these movements as PLMS, predominantly occurring during the N1 sleep stage.
  • The PLMS index ranged from 6.9 to 8.8 events per sleep hour.

Conclusions:

  • PLMS in LNS may indicate impaired spinal sensory gating, potentially linked to dopaminergic system abnormalities.
  • SIB in LNS could be a maladaptive motor response to aberrant sensory processing or dysesthesia resulting from dopamine imbalance.
  • Further research into dopaminergic pathways and sensory processing in LNS is warranted.
Abstract

Keywords:
DopamineLesch-Nyhan syndromePeriodic limb movementsReceptor hypersensitivitySelf-injurious behaviorSpinal trigeminal nucleus

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