I am affected by dystonia, as are other members of my family. What does the discovery of the DYT1 gene mean to me?
The discovery that the DYT1 gene encodes for torsinA has several important implications for those affected by early-onset dystonia. You and other members of your family may now be able to receive an accurate, direct genetic test to determine if you are a carrier of this gene. Such a test may benefit individuals who have symptoms associated with dystonia as well as those who do not have symptoms but have a relative with dystonia. For those individuals with symptoms, a positive test for the DYT1 gene may assist their neurologist in confirming the diagnosis. For relatives of affected individuals, this genetic test may provide important information as to whether or not they are also carriers of the DYT1 gene. This may help to establish their risk for developing symptoms associated with dystonia.
