Question: How many people are affected by dystonia 6 ?
Answer: The prevalence of dystonia 6 is unknown. Studies indicate that it likely accounts for between 1 and 3 percent of all cases of dystonia. For reasons that are unclear, the disorder appears to be slightly more prevalent in females than in males.
Source: GHR

Question: What are the genetic changes related to dystonia 6 ?
Answer: Dystonia 6 is caused by mutations in the THAP1 gene. This gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes. Through this function, it is thought to help control several processes in the body, including the growth and division (proliferation) of endothelial cells, which line the inside surface of blood vessels and other circulatory system structures called lymphatic vessels. The THAP1 protein also plays a role in the self-destruction of cells that are no longer needed (apoptosis). Studies indicate that most of the THAP1 gene mutations that cause dystonia 6 affect the stability of the THAP1 protein, reducing the amount of functional THAP1 protein available for DNA binding. Other mutations may impair the protein's ability to bind with the correct regions of DNA. Problems with DNA binding likely disrupt the proper regulation of gene activity, leading to the signs and symptoms of dystonia 6. A particular THAP1 gene mutation is specific to a Mennonite population in the Midwestern United States in which dystonia 6 was first described. This mutation changes the DNA sequence in a region of the gene known as exon 2. Some researchers use the term DYT6 dystonia to refer to dystonia caused by this particular mutation, and the broader term THAP1 dystonia to refer to dystonia caused by any THAP1 gene mutation. In general, mutations affecting the region of the THAP1 protein that binds to DNA, including the mutation found in the Mennonite population, tend to result in more severe signs and symptoms than mutations affecting other regions of the protein.
Source: GHR

Question: Is dystonia 6 inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. Some people who inherit the altered gene never develop the condition, a situation known as reduced penetrance.
Source: GHR