Myotonia congenita (MC): management

Evidence-based neurology checklist on myotonia congenita (mc): management: Electromyogram (EMG): features Spontaneous motor unit firing Fibrillation potentials Positive sharp waves Waxing and waning frequency and amplitude Repetitive muscle fiber after-discharges Dive-bomber sound when amplified…

Electromyogram (EMG): features

  • Spontaneous motor unit firing
  • Fibrillation potentials
  • Positive sharp waves
  • Waxing and waning frequency and amplitude
  • Repetitive muscle fiber after-discharges
  • Dive-bomber sound when amplified

Electromyogram (EMG): short exercise test

Magnetic resonance imaging (MRI) muscle

Genetic analysis

Treatments of myotonia

Other management

References

  1. Meola G, Hanna MG, Fontaine B. Diagnosis and new treatment in muscle channelopathies. JNNP 2009; 80:360-365.
  2. Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol 2009; 22:524-531. 
  3. Statland JM, Barohn RJ. Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. Continuum (Minneap Minn) 2013; 19:1598-1614.
  4. Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010; 133:9-22.
  5. Trivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain 2013; 136:2189-2200.
  6. And 8 more. Subscribe to see the full list

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