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Myotonia levior: contribution to the nosography
G Siciliano1, R Risaliti, G Vignocchi
1Istituto di Clinica Neurologica, Università, Pisa.
Rivista Di Neurologia
|September 1, 1988
Summary
This study describes a mild myotonic syndrome, "myotonia levior," in two families. Findings suggest it may be a less severe form of Thomsen disease, aiding genetic counseling.
Area of Science:
- Neurology
- Genetics
- Myology
Background:
- Mild myotonic syndrome, termed "myotonia levior," presents primarily with myotonia without significant muscle weakness.
- The nosographic classification of this mild form within congenital myotonias remains uncertain.
- It could represent a low-expressivity variant of Thomsen disease or the heterozygous phenotype of Becker disease.