Myotonia congenita (MC): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Myotonia congenita (MC): clinical features. This is caused by mutations in the CLCN1 gene on chromosome 7q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CLCN1 gene on chromosome 7q
- The gene encodes the voltage-gated chloride channel protein ClC-1
- The transmission may be autosomal recessive or dominant
Genetic types
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Clinical features
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Triggers for myotonia
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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.
- Morrow JM, Matthews E, Raja Rayan DL, et al. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscul Disord 2013; 23:637-646.
- Trivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain 2013; 136:2189-2200.
- Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010; 133:9-22.
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