Dystonia is a movement disorder that causes involuntary muscle contractions. The contractions can be constant or come and go, causing abnormal movements, abnormal postures or both. The movements are often patterned or twisting and may include tremor or other involuntary movements.
Dystonia is often triggered or worsened by voluntary movement. A normal action can set off the unwanted posture.
Dystonia can be inherited or acquired, for example after a traumatic brain injury (1). Some types are progressive and some are not. Depending on the type, the age it begins, the body parts involved, and how it looks and progresses can vary widely.
How Common Is Dystonia?
Dystonia is considered the third most common movement disorder, after essential tremor and Parkinson’s disease. About 250,000 people in the United States have dystonia. It can affect people of any age and any racial or ethnic background (2).
What Are the Early Signs of Dystonia?
Dystonia is often mistaken for stress, neck tension or a psychological problem because it shows up as increased muscle tension. Because early dystonia often comes and goes, and stress can make it worse, it is frequently misdiagnosed as a psychiatric condition (3).
Early signs include increased muscle tension or abnormal postures, usually triggered by movement. Over time, the movements may also happen at rest. The same muscle groups are typically affected throughout, and dystonia often gradually becomes more intense over time.
Some early signs depend on the part of the body involved. Blepharospasm, which can cause increased blinking, eye irritation or sensitivity to bright light, is a common early sign of dystonia around the eyes. Facial spasms, which can feel like small twitches or a tightening of facial muscles, can make chewing or speaking difficult and may be a sign of oromandibular dystonia, which affects the jaw, mouth and tongue. Cramping in the hand while writing or doing repetitive tasks, such as playing the piano or typing, may be a sign of focal hand dystonia. Unusual cramping, turning of the foot or fatigue in the leg while walking can sometimes be a sign of dystonia in the leg.
What Are the Later Symptoms of Dystonia?
For some people, dystonia stays mild. For others, it starts mild and becomes more severe and painful over time. In more severe cases, constant pulling on the joints can lead to joint problems and arthritis (2).
Many people with dystonia also experience anxiety or depression. Some have other symptoms linked to the basal ganglia, such as tics, tremor, obsessive-compulsive symptoms, attention problems and difficulty managing emotions (4).
What Causes Dystonia?
One of the brain’s main jobs is to take in sensory information and turn it into the right movements. The basal ganglia, a group of brain structures involved in both sensory and movement control, appear to be the main site of dysfunction in dystonia (5). Research also points to involvement of the cerebellum, thalamus, cortex and midbrain (6, 7, 8, 9). Dystonia is increasingly understood as a problem in a network of movement-related brain areas, all of which connect with the basal ganglia (5). In this view, dystonia happens when sensory information is processed or filtered incorrectly, leading to the wrong movements or muscle tone in response.
What Happens in the Brain With Dystonia?
Some dystonias are caused by known gene changes, though in many people no genetic cause is found. One of the best-known is a change in the DYT1 gene (also called TOR1A), the most common cause of early-onset generalized dystonia. In most of these cases, symptoms start in a limb and then spread to other parts of the body. DYT1 dystonia usually begins around age 12 and rarely begins after the late 20s (1).
A rarer form, DYT6, was first identified in Mennonite families in the United States. It usually starts in one area and spreads to other parts of the body, often including the head and neck, and it can cause significant speech problems (1). Other rare inherited forms have also been identified in specific families and populations (1).
Dystonia can also develop after a traumatic brain injury that damages areas that control specific muscles or areas that send information to the basal ganglia. A brain injury can disrupt the brain’s map of a body part, so the brain loses precise control over it. This type of dystonia may improve as the brain injury is treated (10).
When your brain receives input from your eyes, inner ear, and muscles and joints, it has to coordinate the right muscle contractions in response. The brain has many competing movement programs, and the basal ganglia help select the right ones for quick, accurate movement. In dystonia, this selection process appears to break down, so the brain defaults to the wrong movement programs, causing involuntary muscle tightening. People with dystonia can often control the movements by concentrating on them, but this can be uncomfortable or painful. Settling into the abnormal posture can feel like a relief, even when the posture itself isn’t comfortable.
How Is Dystonia Diagnosed?
Dystonia is usually diagnosed based on symptoms and a neurological exam. When dystonia is suspected, a provider will usually refer to a neurologist for a full evaluation (11).
How Is Dystonia Usually Treated?
There is no cure for dystonia, and treatment focuses on managing symptoms. Botulinum toxin injections are a main treatment for many types of focal dystonia, including cervical dystonia, which affects the neck. The injections weaken the overactive muscles so they don’t pull the body into painful positions. Side effects can include dry mouth, difficulty swallowing and indigestion. The effects usually last about three months before another injection is needed, and over time a small number of people may become less responsive (12). Oral medications are also used, and some rare forms of dystonia respond very well to levodopa.
Deep brain stimulation (DBS) is a surgical option for some people (13). A small stimulator, similar to a pacemaker, is placed under the skin and connected to thin wires that deliver electrical stimulation to the basal ganglia. The stimulation can be adjusted from outside the body to fit each person’s needs. DBS can greatly reduce symptoms for many people, but it doesn’t help everyone.
How the NeuroRescue Program Can Help
We cannot cure dystonia. Our goal is to help improve the function of your sensory and movement systems, with a focus on reducing abnormal postures, improving movement, balance and walking, and supporting quality of life. Our care works alongside your neurologist and other providers, never in place of them. Please don’t change any medication without talking with your prescriber.
Eye movements. Some of the difficulty in dystonia relates to how the brain combines information about where you are in space. Your brain combines signals from your muscles and joints, your inner ear and your eyes to build that picture. Your eyes constantly scan your surroundings using saccades, quick jumps from one point to another. Because the basal ganglia help generate saccades, they can be affected in dystonia (14), becoming slower, less accurate and quick to tire (15). We use targeted eye movement exercises with the goal of improving the function of the frontal and basal ganglia circuits involved in dystonia.
Head position and balance. In cervical dystonia, a brainstem system called the head neural integrator can also be affected. These cells combine information from the eyes, the neck muscles and the inner ear to create a picture of where the head is in space and how it’s moving. This system is impaired in cervical dystonia, and research suggests that working with the vestibular and visual systems together may help improve it (16). Sensorimotor training has also been identified as a helpful form of rehabilitation in movement disorders (17). We combine eye movement, vestibular and sensory exercises with the goal of improving control and reducing the severity of dystonia.
Other therapies. Much of the research on these therapies has been done in other movement disorders rather than in dystonia specifically. Depending on your needs, your program may include vestibular rehabilitation, which has been studied for balance, walking and thinking (18); optokinetic visual stimulation, which has been studied for movement control and posture (19, 20); various forms of electrical stimulation, applied through the skin, which have been studied for balance, walking, eye movements and tremor (21, 22, 23); and virtual reality exercises, which have been studied for improving daily function and reducing fall risk (24).
Transcranial magnetic stimulation. TMS has been studied for improving movement, balance and mood in movement disorders (25). At our clinic, TMS is provided by our psychiatric mental health nurse practitioner, who will evaluate whether it’s appropriate for you.
Every NeuroRescue Program is different, with therapies chosen based on your testing and your specific situation.
How the NeuroRescue Program Works
Your NeuroRescue Program begins with your Discovery Day. We start with a detailed history of your condition and your life on a timeline, including when your symptoms began, how they have progressed, and any history of brain injury. This helps us understand the factors that may have contributed to where you are now, and identify related conditions that may be making it harder to move forward.
We measure how your visual, vestibular and balance systems are working through computerized analysis of your eye movements, inner ear reflexes and balance under different conditions. Our testing includes videonystagmography and saccadometry to measure several types of eye movements, the video head impulse test to measure inner ear reflexes, and CAPS computerized posturography to assess your balance under different sensory conditions. We also use NeuroSensoryMotor Integration testing to evaluate hand-eye coordination and cognition, and Virtualis testing to assess dynamic eye tracking and your perception of vertical in a virtual reality environment.
We combine this with a thorough physical and neurological exam of your sensory, motor, autonomic and cognitive systems. We also review any relevant lab work, imaging and prior testing, and integrate it with our findings.
Together, this helps us understand which parts of your nervous system are working well, which are struggling, and how quickly they tire. We use that information to design your personal NeuroRescue Program, aimed at improving function and endurance in the systems that need support. Our testing also helps us decide when to push and when to let you rest.
Our goal is to help you gain more control over your movements, feel more comfortable, and enjoy more of your life.
Your Next Step
Living with dystonia is challenging. While we cannot cure it, many symptoms can be managed, and function and quality of life can often improve. To find out if the NeuroRescue Program is right for you, contact one of our patient care coordinators to schedule your Discovery Day.
