A doctor will take a full medical history and perform a physical exam, looking for signs and symptoms of the condition. Other tests may be ordered, with the goal of identifying the location of the issue and to rule out other conditions. These tests include:
Blood or urine test: These tests will reveal toxins in the body
Electroencephalograms (EEGs): This test records some aspects of brain electrical activity. It can reveal other underlying problems, which may help identify the cause of Dystonia.
Computerized tomography (CT) is a noninvasive procedure that uses X-rays to produce a three-dimensional image of the brain. Brains with Dystonia disease appear normal under a CT scan; however, the scan may reveal other conditions.
Magnetic resonance imaging (MRI) uses magnetic fields and radio-frequency waves to create a detailed image of the brain. This test can be used to identify other conditions such as stroke or tumors in the brain.
Electromyography (EMG): This test measures the electrical activity within muscles.
These diagnostic tests can help the doctor identify the condition, therefore ensuring proper diagnosis and treatment.
Treatment Options
While there is no cure for dystonia, there are treatments that significantly improve symptoms.
Medications: There are oral and injectable medications that can help with the muscle spasms and contractions. Some of these medications, including Baclofen, work by increasing the amount of dopamine — a neurotransmitter involved with muscle movement — in the brain. Injections of botulinum neurotoxin (Botox) work by relaxing muscles to ease contractions
Therapy: Regular physical and speech therapy can help a patient to manage and improve the symptoms of dystonia.
Surgery: Deep Brain Stimulation (DBS) is a surgical procedure to treat neurological symptoms including those of dystonia, including tremors and movement control. Open surgery is sometimes used for dystonia, and may be an option to those who haven't been successfully treated using other therapies.
Baclofen Pumps: This treatment is used for focal dystonia. Baclofen is a medicine that eases muscle movement, and it is delivered continuously through a pump implanted into the abdomen. The two types of delivery are intrathecal (with drug delivery into the spinal fluid) and intraventricular (with the drug delivered to the ventricles of the brain).
For more information, see Surgery for Dystonia.
Find out more about the Movement Disorders service and the Pediatric NeuroMotor Disorders Program at the Weill Cornell Brain and Spine Center, or use our online form to request an appointment.
Reviewed by Michael Kaplitt, M.D., Ph.D.
Last reviewed/last updated: April 2022
