Myotonia congenita (MC): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Myotonia congenita (MC): management. Spontaneous motor unit firing, Fibrillation potentials, Positive sharp waves. Fully referenced neurology checklist.
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
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Magnetic resonance imaging (MRI) muscle
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Genetic analysis
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Treatments of myotonia
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Other management
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References
- Meola G, Hanna MG, Fontaine B. Diagnosis and new treatment in muscle channelopathies. JNNP 2009; 80:360-365.
- Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol 2009; 22:524-531.
- Statland JM, Barohn RJ. Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. Continuum (Minneap Minn) 2013; 19:1598-1614.
- Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010; 133:9-22.
- Trivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain 2013; 136:2189-2200.
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