Paramyotonia congenita (PMC)
Evidence-based neurology checklist on paramyotonia congenita (pmc): 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 Myotonia: triggers Other clinical features Mutation-negative…
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
Myotonia: triggers
Other clinical features
Mutation-negative phenotypes
Similarities between paramyotonia and myotonia
Differences between paramyotonia and myotonia
Electromyogram (EMG): features
Treatment
Synonym
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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