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
• Stroke
• Multiple sclerosis
• Meningitis/encephalitis
• 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.