From the screening of focal dystonia patients for the GAG deletion, it seems fairly clear that this mutation is not directly involved in most of these forms of dystonia, with the possible exception of writer's cramp. However, this does not mean that the DYT1 gene does not have a role in these diseases. These genes may be involved in other forms of dystonia. Throughout this process, the clues gathered along the way will lead to ideas about the mechanisms and brain pathways involved in the generation of movements that are disrupted in dystonia for both focal and generalized dystonia. Therefore, understanding the role of DYT1 in this pathway may lead to clues about other aspects of the pathways.
Genetic research has the potential to help all.
Dystonia is a complex disease. Its causes, treatment, progression, and variability of symptoms are difficult to explain, but all dystonias have similar symptoms which involve the same area of the brain and similar neurotransmitters. The discovery of the DYT1 gene is a major step to finding new treatments and leading us to answers that will be applicable to all dystonia patients. Until now, treatments for dystonia have addressed only the surface symptoms of the disorder. Current research is seeking to understand the causes of dystonia and is providing the information necessary to develop treatments that address dystonia at a biochemical level.