Dystonia is a neurological movement condition which affects adults and children. It can affect any part of the body and causes muscles to contract or spasm. This may cause pain, tremors, twisting and other uncontrollable movements. Symptoms may be due to the Basal Ganglia or other areas of the brain that control movement. Neurotransmitters may send signals to muscles to cause them to be overactive.
There are many different causes and types of Dystonia, but some may be genetic. So far approximately 23 different genes or phenotypes have been discovered relating to Dystonia. Click on image to open, view table and a brief description.
Is it important to know? Genetic research relating to Dystonia may be helpful to gain a better understanding of the condition, but also if there is a possibility that it can be passed on to children.
‘’Genetic forms of the disease are important to recognize clinically and also provide valuable information about possible pathogenic mechanisms within the wider disorder’’ – The genetics of dystonia: new twists in an old tale.
However it is very important to discuss genetic testing with your doctor to determine if your Dystonia needs to be explored further.
“At the present time, genetic testing is most profitably employed in familial or early-onset cases, where it is likely to have the highest yield. Despite the fact that the establishment of a molecular diagnosis rarely alters management radically, it can be helpful for patients to understand the cause of their dystonia and also bring a halt to unnecessary continued investigation, as well as allowing the physician to impart accurate information regarding the risk of recurrence in subsequent generations.” – The genetics of dystonia: new twists in an old tale.
A negative genetic test does not mean that your condition is not genetic. Researchers are still discovering more about the genes and may be a possibility you have the inherited form, but some of the related genes have not been discovered yet. However it is important to be aware that if the cause is genetic it may not mean it will be passed on to children. Link to more info – Is Dystonia inherited?
For more detailed information about Dystonia and genetics please click on links provided.
Link to PDF document – BRAIN – A journal of Neurology article (an overview of dystonia genes)
Our Dystonia research page – Dystonia Research
Have you seen this announcement?
“Up to 800 Victorian patients will soon be able to access genetic sequencing to help speed up diagnosis time and improve the treatment of illnesses.” – Genetic sequencing available for more Victorian patients to improve diagnosis, treatments.
Infants and children with complex medical issues will be offered or have access to genomic sequencing as the first diagnostic option, rather than after other testing options have been exhausted. In 2017 they will extend the list to include testing for other conditions. To see the list click on link provided – Faster diagnosis for rare diseases and cancers.
Health or treatment information on this site is for informational purposes only and should be discussed with a health professional. We cannot guarantee accuracy of any information or sources provided.