Paramyotonia congenita (PMC)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Paramyotonia congenita (PMC). This is usually caused by mutations in the SCN4 gene. Fully referenced neurology checklist.
Genetics
- This is usually caused by mutations in the SCN4 gene
- The transmission is autosomal dominant
- The onset is in the first decade
Myotonia: clinical features
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Myotonia: triggers
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Other clinical features
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Mutation-negative phenotypes
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Similarities between paramyotonia and myotonia
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Differences between paramyotonia and myotonia
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Electromyogram (EMG): features
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Treatment
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Synonym
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References
- Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol 2009; 22:524-531.
- Matthews E, Tan SV, Fialho D, et al. What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Neurology 2008; 70:50-53.
- Stunnenberg BC, Drost G. Teaching video neuroimages: lid lag sign and diplopia in paramyotonia congenita. Neurology 2014; 83:e68.
- Magot A, David A, Sternberg D, Péréon Y. Focal and abnormally persistent paralysis associated with congenital paramyotonia. BMJ Case Rep 2014; 2014:bcr2014204430.
- Jurkatt-Rott K, Lerche H, Lehmann-Horn F. Skeletal muscle channelopathies. J Neurol 2002; 249:1493-1502.
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