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Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

Emma Matthews1, Arpana Silwal2, Richa Sud3

  • 1Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK.

The Journal of Pediatrics
|July 1, 2017
PubMed

Insights

Early diagnosis of skeletal muscle channelopathies in children is crucial. Presenting symptoms like gait issues and leg cramps warrant investigation for myotonia, aiding early intervention and educational potential.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Neuromuscular Disorders

Background:

  • Skeletal muscle channelopathies are genetic disorders affecting muscle function.
  • Early recognition of pediatric symptoms is vital for timely management.
  • Symptoms in children can differ significantly from adult presentations.

Purpose of the Study:

  • To identify the common presenting symptoms of skeletal muscle channelopathies in children.
  • To facilitate earlier diagnosis and treatment initiation.
  • To improve long-term outcomes and educational attainment in affected children.

Main Methods:

  • Retrospective case review of 38 pediatric patients.
  • Analysis of data from a specialist pediatric neuromuscular service.
  • Review of symptoms over a 15-year period.

Main Results:

  • Gait disorder and leg cramps were frequent in myotonic disorders.
  • Strabismus and respiratory/bulbar symptoms were noted in sodium channelopathy.
  • Neonatal hypotonia, scoliosis, and contractures were observed in some cases.
  • Limited school attendance and activity engagement affected many children.

Conclusions:

  • Pediatric skeletal muscle channelopathies present with distinct symptoms, including gait abnormalities, leg cramps, and strabismus.
  • Prompt evaluation for myotonia is recommended for children with these symptoms.
  • Monitoring for specific complications (e.g., respiratory) is necessary for certain channelopathies.
  • Early diagnosis is key to maximizing children's educational and developmental potential.
Abstract

Keywords:
crampsgaitmyotoniaperiodic paralysisstrabismus

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