Dystonia 6, Torsion
Type of disease: Rare conditions
Torsion dystonia 6 is a movement disorder that begins later in life. Individuals affected by this disorder first have involuntary movements, twisting and muscle contractions. Muscles often get very tense, and body parts may be positioned abnormally. This involuntary movement first starts in the head, neck, and eyelids. This causes problems with speaking and eating. Eventually this can spread to include the limbs like the arms and legs. This condition can appear at any age, though the average age of onset is 18 years old.
Torsion dystonia 6 is a genetic condition caused by a change in the THAP1 gene. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, this is called a mutation, and causes the gene to not work properly. Each person has two copies of every gene, one from mom and one from dad. Torsion dystonia 6 is passed down from parent to child in an autosomal dominant manner which means only one mutation from one parent is needed to cause symptoms. A person with this condition has a 50/50 chance of passing the condition on to their children. However, some carriers of the mutation do not have symptoms of the disorder. This is because this disease has different penetrance depending on the case. Penetrance is how much a certain gene is expressed in individuals carrying it. Some people carrying the mutated THAP1 gene may not express it fully and therefore do not show the symptoms of torsion dystonia 6; this is known as reduced penetrance.
Treatment varies on the severity and type of symptoms present. Treatment may include drugs in order to help in early stages of the disease, and Botox to relieve the dystonia. If you or a family member has been diagnosed with torsion dystonia 6, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.