What is a Dystonia?

Jul 28

Dystonia is a type of movement disorder that is characterized by involuntary muscle contractions. The contractions can be sustained or intermittent, causing abnormal movement, abnormal posturing, or both. The movements or muscle contractions of a dystonia are often patterned or twisting, and may involve a tremor or other spontaneous movement.

Dystonia is often initiated or provoked by voluntary movement. Usually, some normal form of movement triggers the unwanted posturing.

Dystonia can be a result of genetics or other acquired causes, such as traumatic brain injuries (10). There are also degenerative and non-degenerative subtypes of dystonia. Depending on the subtype, factors such as the age of onset, the location, presentation and progression of the dystonia can widely vary.

How Common is Dystonia?

Dystonia is considered the third most common movement disorder, behind Parkinson’s disease and essential tremor. Approximately 250,000 people in the United States have dystonia. There are no obvious age, ethnic or racial associations that can be made with dystonia. It can affect anyone of any ethnic origin at any point in their life (11).

What are the Early Signs of Dystonia?

Dystonia is frequently misdiagnosed as stress, neck tension or psychological because it appears as increased muscle tension. Since dystonia is usually intermittent at onset, and also commonly provoked by stress, it is very often misdiagnosed as a psychiatric condition (21).

Early signs of dystonia are increased muscle tension or posturing, usually triggered by movement. Later in the disorder, these movements may also occur at rest. Typically, the same muscle groups are continually affected throughout the disorder. Dystonia tends to gradually progress in intensity and severity over time.

Blepharospasm, which involves increased blinking, eye irritation or increased sensitivity to bright light, is often an early dystonia sign.

Facial spasms may occur, which can be small twitches in the muscles of the face or a sensation as though a facial muscle is tightening. This may lead to difficulties with chewing or speech. This may be a sign of an oromandibular dystonia.

Cramping in the hand while writing or doing repetitive movements, such as playing the piano or typing may indicate focal hand dystonia.

Quickly fatiguing while walking or exercising may indicate a lower extremity dystonia.

What are the Later Symptoms of Dystonia?

For some people, dystonia always remains mild, while for others it can start as benign and become severe and painful over time. More severe cases are usually accompanied by deterioration of the joints surrounded by the affected muscles and lead to arthritis (11).

Patients with dystonia also frequently experience anxiety and/or depression around their disorder. They may have other symptoms suggesting basal ganglia disorders, as well, including tics, tremors, OCD, ADHD/ADD, anxiety, behavioral disturbances and difficulties controlling their emotions (22).

What Causes Dystonia?

One of the brain’s primary functions is to interpret incoming sensory information, and translate this input into appropriate motor responses. The basal ganglia, an important series of pathways and nuclei involves both sensory and motor regulation, appears to be the primary site of dysfunction in dystonia (4). Additional research is showing involvement from areas such as the cerebellum, thalamus, cortex and midbrain (1,2,3,5). Dystonia is becoming more widely understood to be a motor network issue (4), as these structures all contribute information to the basal ganglia. Dystonia can then be understood as a movement disorder in which sensory information coming in is either incorrect, or being inappropriately modulated by the basal ganglia, leading to inappropriate movement or tone as a response.

What is Going on in the Brain with Dystonia?

Primary dystonia is the result of genetic mutations. Many dystonia subtypes are due to a mutation in DYT1 genes. In about 90-95% of cases, symptoms will start in a limb and then spread to other regions of the body. Dystonia as a result of DYT1 mutation has an average onset at 12. and discontinues development beyond age 29 (10).

A rarer gene mutation causing dystonia is DYT6. It has been studied in two Mennonite families in the United States. This form starts in one focal region but then spreads to multiple different body regions, typically including the limbs, head or neck, including severe challenges with speech (10).

Other familial primary dystonia types have been noted in specific ethnic groups, primarily of European descent. These mutations are DYT7, DYT2, and DYT4 (10).

Dystonia may also develop secondary to a traumatic brain injury, where there has been damage to parts of the brain that control movement of specific muscles, or damage to areas that provide input to the basal ganglia. A TBI typically will cause the brain’s map of a specific body part to become altered, such that the brain loses precise control over the affected body part. These kinds of dystonia may be resolved with treatment of the traumatic brain injury, as long as traumatic brain injury did not turn on gene expression of any of the genes mentioned above (23).

When we receive sensory inputs to our brain from various systems, including vision, vestibular (inner ear) or proprioceptive inputs from our muscles and joints, our brain needs to orchestrate appropriate muscle contractions in response. There are many competing motor programs that control various movements, and our basal ganglia allows us to select the appropriate ones for a quick and accurate movement that allows us to achieve our goal.

In dystonia, the DYT gene mutation causes the basal ganglia to become compromised, such that it can no longer choose the proper motor programs and instead defaults to inappropriate motor programs, causing involuntary tightening of muscles. People with dystonia can often control their movements if they focus on them, but it is uncomfortable and sometimes painful. It feels relieving for them to be in a position that allows for those muscles to be tight, even if the position itself is not ideal.

How is Dystonia Diagnosed?

Dystonia is in most cases a clinical diagnosis. When more than one of the primary symptoms of dystonia are present, a provider will usually refer to a neurologist, where a full neurological examination will generally reveal other findings that confirm the disease (24).

How is Dystonia Usually Treated?

There is no cure for dystonia. A common treatment was developed in 1980 that uses Botulinum toxin type A, but subjects of the treatment became quickly resistant to its effectiveness. In 2001, the U.S. Food and Drug Administration approved botulinum toxin type B for treatment of cervical dystonia. Botox injections paralyze the involved muscles to prevent them from contracting and distorting the neck into painful and uncomfortable positions. It produces mild-to-moderate side effects, such as dry mouth, difficulty swallowing and indigestion. It usually lasts as a helpful aid for 3 months before another round of injections is required (25).

A surgical treatment for dystonia is deep brain stimulation, or DBS (12). During the surgery, a battery-powered stimulator, similar to a pacemaker, is implanted in the body. It delivers electrical stimulation to the basal ganglia. The stimulation delivered is controlled by a remote control so that it can be tailored to each individual patients’ needs. While it can greatly reduce symptoms, it is not guaranteed to help everyone with dystonia.

How Is the NeuroRescue Program Different?

As part of your NeuroRescue Program, we employ a host of advanced therapies and technologies that can help improve the function of your sensory and motor systems. By doing so, we can often help reduce your posturing, restore your mobility, reduce your tremor, improve your balance and gait, and enhance your quality of life. While we cannot cure dystonia caused by a genetic mutation, we regularly see improvements in dystonia symptoms with our protocols.

Much of what happens in dystonia is related to the inability to properly localize yourself in the environment. Your brain makes sense of where you are in the world through inputs from your muscles and joints, inputs from your inner ear, and inputs from your eyes. The eyes are constantly scanning the world to provide the brain with a visual map of the surrounding space. It does this with saccades, which are fast eye movements from target to target. The basal ganglia are involved in generation of saccades, and as such we see a breakdown in saccades with dystonia (7). Saccades become slow, lose accuracy, and are easy to fatigue (6). We find that by rehabilitating these eye movements, we can improve the function of the frontal-basal ganglia circuits involved in dystonia.

In cervical dystonia, there is also an issue with a system known as the head neural integrator. These are cells in the brainstem that integrate visual inputs, feedback from neck muscles, and inputs from the inner ear. They function to create an integrated picture of where the head is in space and how it is moving.

Head integrator function is significantly impaired in cervical dystonia. This function can be improved by addressing the vestibular system and visual system together (8). Sensorimotor training has been identified as another helpful form of rehabilitation in patients with a movement disorder (9). We find that by rehabilitating eye movements, the vestibular system and the sensory systems in a very precise manner, we can often improve basal ganglia function and reduce severity and frequency of the dystonia.

There are a host of other therapies that we engage in with our dystonia patients. All of these have different functions and allow us to rehabilitate specific capacities. These range from vestibular rehabilitation to improve balance, gait, and cognition (13), to visual optokinetic stimulation to improve motor control and postural stability (14,15). They include a number of different types of electrical stimulation to improve cognition, eye movements, balance, gait, tremor, cognition, blood pressure regulation, and even swallowing (16,17,18). They even include therapies such as transcranial magnetic stimulation to improve motor function, emotional regulation and balance (19), and virtual reality exercises to improve the ability to function in the world and decrease fall risk (20).

No two dystonia presentations are alike, and the same holds true for the NeuroRescue program. A cookie-cutter approach will be doomed to fail in a condition as complicated as dystonia. All of our therapy protocols are tailored to the unique needs of the individual.

How does the NeuroRescue Program work?

We design your unique NeuroRescue Program to be among the most comprehensive diagnostic and therapeutic protocols available today. We create individual NeuroRescue Programs based on a comprehensive analysis of every relevant neurological system and pathway, using gold-standard, cutting edge neurodiagnostic technologies and examination procedures and state-of-the-art therapies.

We begin with your Discovery Day, wherein we perform a comprehensive history of not only your condition, but your life on a timeline. This allows us to dive deeply into your case and see all of the factors that led to where you are now. It helps us uncover hidden problems and associated conditions that may be making it difficult for you to move your recovery forward.

In the case of a dystonia, this requires a deep dive into the sensory systems, chronology of onset and progression and any past history of brain injury.

Our examination allows us to identify the areas and pathways of your brain that have been impacted to result in your dystonia. We begin by precisely quantifying the function of your visual, vestibular, and proprioceptive systems through computerized analysis of your eye movements, your inner ear reflexes, and your balance in a host of different sensory conditions.

We employ technologies including Videooculography and Saccadometry to measure several classes of eye movements. We use Video Head Impulse Testing to measure the function of your inner ear, and Computerized Dynamic Posturography to assess your balance in different sensory conditions.

We use NeuroSensoryMotor Integration testing to evaluate hand-eye coordination and cognition, and Virtualis testing to assess dynamic eye tracking and perception of vertical in a virtual reality environment.

We combine all of this with a comprehensive physical and neurological examination of your sensory, motor, autonomic, and cognitive systems. We review any relevant laboratory testing, radiological imaging, and prior neurodiagnostic testing, and integrate that information with our findings.

We use this information to identify which parts of your brain are working properly, which systems are struggling, and the precise point at which your systems fatigue.

We can then design a NeuroRescue Program that is unique and specific to your brain, and yours alone. Your NeuroRescue Program works to rejuvenate and reintegrate the damaged neurons and pathways in your brain. It works to improve energy, endurance, and functional capacity within your fragile systems.

We use our technologies and procedures to not only see what we need to address, but also when it is time to stop and let you rest. We address your impaired neurological function from multiple angles of therapy, and provide metabolic support to improve neurological recovery.

While we cannot bring back neurons that have been lost to the underlying cause of your dystonia, be it genetic or traumatic, your NeuroRescue Program allows us to take the pathways that remain and maximize their efficiency and endurance. And by focusing on the integration of systems, we can do more than just get pathways working better, we can get them working together again. This gives us our best opportunity to help you get your motor system back under control, and return to living a healthy, vibrant, and fulfilling life.

Your Next Best Step:

Living with a dystonia is challenging. While we cannot offer a cure for the condition, many of the symptoms can be manageable, function can be enhanced, and quality can often be significantly improved. To see if the NeuroRescue Program is right for you, contact one of our patient care coordinators to schedule your Discovery Day.

And remember, it’s never too late to start getting better.