Muscle channelopathies: general investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Muscle channelopathies: general investigations. Genetic testing, Next generation sequencing (NSG). Fully referenced neurology checklist.

Genetic testing

  • Genetic testing
  • Next generation sequencing (NSG)

Blood investigations

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Electromyogram (EMG)

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Other muscle investigations

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Cardiac investigations

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References

  1. Matthews E, Neuwirth C, Jaffer F, et al. Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology 2018; 90:e412-e418. 
  2. Matthews E, Palace J, Ramdas S, et al. Care recommendations for the investigation and management of children with skeletal muscle channelopathies. Pediatr Neurol 2023; 145:102-111.
  3. Matthews E, Holmes S, Fialho D. Skeletal muscle channelopathies: a guide to diagnosis and management. Pract Neurol 2021; 21:196-204.

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