Type of disease: Rare conditions
Dystonia 13 is a type of movement disorder that mainly involves painful muscle movements that cannot be controlled. This type of dystonia affects parts of the body that are connected to each other. The muscle spasms usually begin in the head and may spread to the neck region, shoulders, and arms. These movements are caused by problems with the nervous system that happen before birth.
Dystonia 13 is a genetic condition caused by a change in the DYT13 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. A mutation causes the gene to not work properly. Each person has two copies of every gene, one from mom and one from dad. Dystonia 13 is passed down from parent to child in an autosomal dominant manner. This means only one mutation from one parent is inherited in order to cause symptoms. A person with dystonia 13 has a 50/50 chance of passing the condition on to their children.
Dystonia 13 has only been reported within one Italian family. Within this family, individuals started showing symptoms between the ages of 5 years and early adulthood. Usually, this condition will develop slowly and get worse over time. There is currently no treatment for this condition, but individuals with dystonia 13 can live just as long as individuals without the condition. If you or a family member has been diagnosed with dystonia 13, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.