Potassium-aggravated myotonia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Potassium-aggravated myotonia. This is caused by mutations in the SCN4A gene on chromosome 17q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the SCN4A gene on chromosome 17q
- It is a sodium channelopathy
- The transmission is autosomal dominant
Classification
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Clinical features: myotonia
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Clinical features: others
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Treatment
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Synonym
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References
- Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010; 133:9-22.
- Orrell RW, Jurkat-Rott K, Lehmann-Horn F, Lane RJM. Familial cramp due to potassium-aggravated myotonia. JNNP 1998; 65:569-572.
- Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol 2009; 22:524-531.
- Rempe T, Subramony SH. "Status myotonicus" in Nav1.4-M1592V channelopathy. Neuromuscul Disord 2020; 30:424-426.
- Lehmann-Horn F, D'Amico A, Bertini E, et al. Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. Acta Myol 2017; 36:125-134.
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