Dystonia is a form of movement disorder where faulty signals from the brain cause abnormal, involuntary and often painful muscle contractions. These dystonic contractions can be intermittent or continuous, and can produce noticeable repetitive movements, such as twisting or tremors, as well as abnormal postures.
Dystonia is often brought on by common, voluntary movements and can then spread to nearby muscles. The condition occurs in men and women of any age and can affect a single part of the body or it can be generalized throughout the body affecting multiple muscle groups.
Dystonia is one of several movement disorders diagnosed and treated by the fellowship-trained specialists at Inova Movement Disorders Program.
What Causes Dystonia?
The underlying cause of all dystonia is an abnormal signal from the nervous system to the muscles resulting in involuntary contractions. Dystonia can occur from a genetic condition, a progressive disease or illness, or an injury or change to the central nervous system. There are many forms of dystonia and there are a wide variety of diseases for which dystonia can be a symptom.
A primary dystonia is considered when it is the primary symptom and there is no evidence of injury or structural abnormality within the central nervous system. The exact cause is unknown, but it is thought to be abnormal functioning within the regions of the brain responsible for movement, such as the basal ganglia. There is likely a genetic component to a primary dystonia.
Secondary dystonia refers to any dystonia that occurs as the result of some injury to the nervous system or neurologic disease. The list of potential causes of secondary dystonia is extensive but some possibilities include:
- Head and Neck Trauma
- Brain Injury
- Spinal Cord Injury
- Multiple Sclerosis
- Drug Side Effect
- Toxic Exposure
- Parkinson’s Disease
- Wilson’s Disease
Types of Dystonia
Dystonia can be further classified into generalized dystonia, segmental dystonia, and focal dystonia. As the name suggests, a generalized dystonia affects multiple areas throughout the body. Segmental dystonia affects connected parts of the body. Focal dystonia can occur in any individual part of the body. A multifocal dystonia is when the dystonia occurs in more than one party of the body, regardless of whether the regions are connected.
The following is a brief list of some of the regions of the body that can be affected by dystonia and the respective diagnosis.
- Eyes – blepharospasm – abnormal or uncontrolled blinking or face movements
- Neck-cervical dystonia or spasmodic torticollis – abnormal tightness of the muscles of the neck, resulting in neck pain, headaches and/or abnormal pulling of the head to the side or in another direction
- Mouth/tongue – oromandibular or lingual dystonia – abnormal movements of the mouth or tongue
- Hand or arm – writer’s cramp, focal hand dystonia, or musician’s dystonia that comes out with a task such as playing an instrument
- Abdomen or trunk – camptocormia or truncal dystonia
- Leg or feet – limb dystonia or focal foot dystonia – abnormal cramping or tightness in the legs or feet.
How Is Dystonia Diagnosed?
It is important for dystonia to be diagnosed and treated early as dystonia can be very painful and make even everyday tasks more difficult. The first step is meeting with an Inova movement disorders specialist for a formal evaluation. There is no specific test that can confirm the diagnosis of dystonia, so your movement disorder neurologist is specifically trained to make the diagnosis based on your personal history and neurological examination.
The movement disorders specialist can then order any necessary testing to help diagnose an underlying condition that may be the primary cause of the dystonia. This testing may include blood tests, urine tests, analysis of cerebrospinal fluid, brain imaging, electromyography, electroencephalography, or genetic testing.
How Is Dystonia Treated?
Once the dystonia becomes bothersome, a movement disorders specialist can help you select the treatment that is best for you.
- There are a range of medications and complimentary treatments that can alleviate some the dystonic symptoms. Your movement disorders specialist can guide you in the treatment of any underlying illness or disease that may be causing the dystonia.
- Botulinum toxin injections are a very effective tool to specifically target the overactive muscles and are offered by Inova Movement Disorders Program
- If medications fail to improve the symptoms, deep brain stimulation (DBI) is an FDA-approved technology for dystonia and offered by the specialists at Inova Movement Disorders Program
What Do I Need to Do Now?
It is very important to be seen by a movement disorders specialist as early in the course of your condition as possible. Treatments and medications exist that can improve your quality of life now.
Inova Offers Expertise in Diagnosis and Care for Dystonia
For more information on specialty cervical, generalized or focal dystonia care and treatments that are available, including botulinum injections and deep brain stimulation, please contact Inova Movement Disorders Program at 703-845-1500.
Treatment for dystonia is determined by your Inova Movement Disorders Program doctor based on:
- Your age, overall health, and medical history
- Extent and severity of the dystonia
- Type and location of the dystonia
- Your tolerance for specific medications, procedures, or therapies
- Expectations for the course of the condition
- Your opinion or preference
We have yet to find a cure for dystonia or many of the underlying causes. However, based on the severity of the symptoms and medical profile, the doctor will establish an appropriate treatment protocol. Treatment may include the following:
- EMG-guided botulinum toxin injections
- Surgery (deep brain stimulation)
- Complementary and supportive therapies, such as diet, exercise, physical therapy, occupational therapy and speech therapy
Medication for Dystonia
Once the diagnosis of dystonia has been made, the next decision is whether a patient should receive medication based on his or her condition. This can include specific medications to help reduce the painful overactive muscle activity or can include treatments specific to the underlying cause of the dystonia. No two patients react the same way to a given drug. It takes time and patience to find an appropriate medication and dosage to alleviate symptoms.
Botulinum injections are an FDA indicated, effective treatment for dystonia. Through targeted injections, a movement disorder specialist can use botulinum toxin to reduce the over activity of the troublesome muscles. A trained movement disorders specialist can use electromyography (EMG) to precisely guide the placement of the toxin to only the affected muscles, thus improving the effectiveness and minimizing any possible pain and side effects. These injections allow relief from the symptoms of dystonia for potentially months without the risk of side effects associated with some oral medications. Botulinum injections are proven to significantly improve the pain, tightness and disfiguring muscle contractions that occur in dystonia.
Surgery for Dystonia
Based on the severity of the condition and the medical profile, the doctor may recommend surgery as one treatment option for dystonia.
The main surgery for dystonia is called deep brain stimulation (DBS). It is aimed at helping to reduce the overactive signals being sent from the brain to the muscles. Though it does not cure the dystonia or stop the progression of any underlying disease that might be causing the dystonia, it can provide significant relief from the pain, movements, or dystonic posturing. In many patients, DBS surgery has been shown to decrease the amount of medication that is needed to control the symptoms.
With deep brain stimulation (DBS), a small electrode is placed in the critical parts of the brain that help to control movement. The electrode is attached to a small battery in the chest wall and is connected by wires that are placed under the skin. The stimulator is then turned on and interrupts the flow of abnormal information that causes the involuntary muscle contractions in dystonia.
For more information on dystonia, including specialty cervical, generalized or focal dystonia care and treatment, contact Inova Movement Disorders Program at 703-845-1500.