Article
Dystonia: phenotypes and genotypes.
Revue neurologique - 1 Oct 2003
Bressman S B
Abstract excerpt
Despite clinical and genetic complexity of dystonia, knowledge of primary torsion dystonia and dystonia-plus syndromes was recently expanded. Part of the category of primary dystonia includes genetic forms (DYT1, DYT6, DYT13). The DYTI mutation, with predominant limbs (95p. 100) and neck and trunk (25-35p. 100) involvement accounts for about 80p. 100 of the early onset cases in the Ashkenazi population and of...
Topics
- Dystonia
- Dystonia Musculorum Deformans
- Genotype
- Humans
- Myoclonus
- Parkinson Disease
- Phenotype