In most cases, a confident diagnosis of dystonia can be made by making a visual examination of your physical symptoms.
It’s important to confirm whether your dystonia is primary or secondary in order to determine which type of treatment to use. Secondary dystonia is caused by an underlying health condition, injury or some other type of damage.
For many people who have the typical signs of late-onset focal dystonia, the diagnosis doesn’t require specific investigations by their doctor. However, some people may need a series of tests and examinations to confirm whether they have primary or secondary dystonia. These tests are described in more detail below.
- Your recent medical and family history will be discussed – for example, whether you’ve recently had a head injury, or whether you have a relative who has dystonia.
- Urine and blood tests to check how well your organs, such as your liver, are functioning and whether you have an infection or high levels of toxins in your body.
- Genetic testing – a DNA sample can be taken from your blood and checked to see whether you have any of the abnormal genes that are associated with some types of dystonia; genetic testing can also confirm whether or not your dystonia is caused by a genetic condition, such as Huntington’s disease.
- A magnetic resonance imaging (MRI) scan checks whether there’s any damage to your brain, or whether you have a condition that’s affecting your brain, such as a tumour.
If you have early-onset dystonia, you may also be given a course of medication called levodopa. If your symptoms suddenly improve after taking levodopa, a confident diagnosis of dopa-responsive dystonia can be made.
