Dystonia: Diagnosis & Treatment

Dystonia causes involuntary muscle contractions, leading to uncontrolled twisting movements, abnormal posture, and discomfort. It can be a primary condition or a consequence of other disorders. Treatment requires correctly diagnosing the cause of dystonia, which can be difficult because of the diversity of causes.

The Dystonia Clinic at Massachusetts General Hospital offers expert care for adults and children with dystonia. Our researchers have a long history of leading discoveries, including identifying and cloning the gene for early-onset dystonia in 1997—a breakthrough that deepened understanding of the disease and advanced preventive treatments. We continue to drive research to uncover additional dystonia-related genes and use functional MRI to study how the condition affects brain function. Mass General was also among the first hospitals to perform deep brain stimulation (DBS) to treat dystonia.

To request an appointment, please call 617-726-3642.

Understanding Dystonia

Dystonia is a condition that causes involuntary muscle contractions. People with dystonia experience uncontrolled movements—usually twisting or bending—that may also be uncomfortable. Depending on the area affected, a person may also experience symptoms such as:

• Uncontrolled blinking that makes it hard to see
• Difficulty writing by hand
• A weak voice

Dystonia can be a primary condition or a consequence of other conditions that affect the brain, such as stroke, Huntington's disease, or traumatic brain injury.

Learn more about the symptoms and causes of dystonia

How to Diagnose Dystonia

Diagnosing dystonia isn't always easy because so many things can cause it. In some people, the cause is genetic, while in others, dystonia is the result of another condition or injury affecting the brain. Dystonia can also be idiopathic, meaning that the cause isn't known.

Doctors typically reach a dystonia diagnosis by ruling out other possibilities. First, you'll have a physical exam and talk to the doctor about your symptoms, medical history, family history, and lifestyle. Your doctor may also refer you to a specialist for a neurological examination. You may need a variety of tests before dystonia can be diagnosed, such as:

• Genetic testing: Some forms of primary dystonia result from abnormal gene variants. Genetic testing can look for signs that you carry genes associated with dystonia. A genetic test may also identify other conditions, such as Huntington's disease, that can cause secondary dystonia.
• Neurological imaging: Brain scans such as PET, CT, or MRI can help doctors exclude other conditions that could explain your symptoms.
• Electrical tests: An EEG measures electrical activity in the brain and can help doctors rule out epilepsy, among other conditions. An EMG examines electrical activity in the muscles to see if the nerves work as expected.
• Lab tests: Sometimes, dystonia is the result of poisoning or exposure to toxic substances. Blood and urine tests can identify substances in your system that may cause dystonia. A spinal tap can examine your spinal fluid, allowing doctors to rule out some neurological conditions that could cause your symptoms.

Your care team may not perform all these tests. They'll choose the ones they believe will be effective based on your medical history and symptoms.

Dystonia Treatment

Unfortunately, there's no cure for dystonia. Treatment usually focuses on managing or relieving symptoms. In people with secondary dystonia, treating the underlying condition is an essential part of treatment for dystonia.

Because so many things can cause dystonia, treatment plans are highly personal. Your care team may recommend:

• Botulin toxin: Injections in the affected area can reduce or prevent muscle contractions to relieve symptoms.
• Medications: Muscle relaxants and drugs that reduce the levels of neurotransmitters related to muscle activity can improve symptoms.
• Surgery: Deep brain stimulation can help treat dystonia in severe cases that don't respond to other treatments.
• Complementary therapy: People with dystonia may benefit from physical therapy and relaxation practices.

New Treatments for Dystonia

Deep brain stimulation is a new treatment for dystonia. It has largely replaced other surgical treatments for dystonia—like pallidotomy—that involved scarring certain brain regions to reduce symptoms.

Another potential new treatment for dystonia called transcranial magnetic stimulation (TMS) uses magnets to affect the brain regions involved in dystonia. It's still being studied, and may lead to non-invasive dystonia treatments for certain forms of the condition, such as focal hand dystonia, that are resistant to other dystonia treatments.

The Mass General Dystonia Clinic is a regional referral center for adults and children staffed with experts who take a takes a team approach to patient care. Contact us at 617-726-3642 to schedule an appointment or to learn more.

FAQs About Dystonia Treatments and Diagnosis

What triggers dystonia attacks?

Triggers depend on the type of dystonia you experience. For example, task-specific dystonia occurs only while performing specific triggering activities. Other people have persistent dystonia that rarely goes away, if ever. Stimulants, stress, and lack of sleep may also provoke dystonic episodes.

What are the symptoms of dystonia in adults?

Symptoms of dystonia in adults are usually focal, meaning that they affect only a specific part of the body. Progression to generalized dystonia is less common in adult-onset dystonia than in childhood dystonia.

What can be mistaken for dystonia?

Dystonia shares features with many neurological and metabolic conditions, making it hard to diagnose. Conditions and symptoms that can be confused with dystonia include:

• Chorea
• Myoclonic seizures
• Psychological conditions
• Tremor

What are the telltale signs of dystonia?

The telltale sign of dystonia is persistent, involuntary muscle contractions.

How do I calm down my dystonia?

Some people use "sensory tricks" such as lightly touching the affected area to invite the muscles to relax. However, sensory tricks aren't standardized. What works for one person may not work for another, and tricks may lose or gain effectiveness over time.

Can dystonia be cured?

There's no cure for dystonia, but treatment can help you manage or reduce symptoms. Secondary dystonia can also benefit from treating the underlying condition.

What is the life expectancy of a person with dystonia?

On its own, dystonia doesn't usually shorten lifespan. However, the conditions that cause secondary dystonia may impact life expectancy. Talk with your doctor about the possible long-term effects of any underlying conditions you may have.