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Dystonia is the third most common movement disorder after Essential Tremor and Parkinson's Disease. It is characterized clinically by involuntary muscle contractions, which force certain parts of the body into abnormal, sometimes painful, movements or postures.
Clinically and genetically dystonia is a heterogeneous disorder.
A deletion of the nucleotides GAG in exon5 of the gene for TorsinA was the first mutation shown to cause early-onset generalized torsion dystonia (DYT1) in 1997 (Ozelius et al.). This mutation can be detected in about 50% of patients with early-onset generalized dystonia and is to date the most extensively characterized inherited dystonia.
The inheritance of the GAG-deletion follows an autosomal-dominant pattern with reduced penetrance. In very rare instances DYT1-mutation carrier present only with focal dystonia, like writer's cramp. In some families the disease phenotype is suppressed by reduced penetrance over two or more generations and case may appear to be sporadic.
Further genes have been identified for "Dystonia-plus syndromes":
- GTP-cyclohhydrolase I mutations in Dopa-responsive Dystonia (DYT5)
- MR-1 mutations in Paroxysmal Non-kinesiogenic Dyskinesia (DYT8)
- SGCE mutations in Myoclonus-Dystonia (DYT11)
- ATP1A3 mutations in Rapid-onset Dystonia-Parkinsonimus (DYT12)
A mutational screening suspected to carry DYT1-, DYT5-, DYT11- or DYT12-mutations can be offered.
Our research is focussed on the genetics and molecular mechanisms of TorsinA and epsilon-sarcoglycan (SGCE).
Genetics and Molecular Mechanisms of Myoclonus-Dystonia (M-D, DYT11)
Genetic Diagnostics of Dystonia-related Genes
Sample Shipping for Genetic Testing