Search
myotonia congenita; Thomsen disease; Becker disease; myotonia levior
Pathology:
- skeletal muscle stiffness (delayed relaxation), due to membrane hyperexcitability
Genetics:
- autosomal dominant (Thomsen disease)
- autosomal recessive (Becker disease)
- associated with defects in CLCN1
Clinical manifestations:
- muscle rigidity
Notes:
- a variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms, later onset & absence of muscle hypotrophy & hypertrophy
General
myotonic disorder
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM correlations
References
- OMIM :accession 160800
- OMIM :accession 255700