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myotonia SCN4A-related (MYOSCN4A); myotonia permanens; myotonia fluctuans
includes myotonia permanens & myotonia fluctuans
Genetics:
- associated with defects in SCN4A
Clinical manifestations:
- phenotypically highly variable myotonia aggravated by K+ loading, & often by cold
- myotonia permanens:
a) myotonia is generalized
b) hypertrophy of the muscle, particularly in the neck & the shoulder
c) attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In
- myotonia fluctuans:
a) muscle stiffness may fluctuate from day to day
b) provoked by exercise
General
myotonic disorder
Database Correlations
OMIM 608390
References
OMIM :accession 608390