Understanding Dystonia: Symptoms, Diagnosis, and Treatment

Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements. This disorder is a complex, highly variable neurological movement disorder that affects as many as 250,000 people in the United States, making it the third most common movement disorder behind essential tremor and Parkinson’s disease. 

Dystonia can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia) or all parts of your body (general dystonia), and symptoms can range from mild to severe. While there is no cure for dystonia, there are treatments available, including medications and sometimes surgery. 

What is dystonia?

Dystonia is a neurological movement disorder characterized by involuntary muscle contractions. Dystonia affects all types of people—it can affect young children to older adults of all races and ethnicities. 

Though the exact cause is unknown, dystonia results from abnormal functioning of the basal ganglia, a deep region of the brain which helps control coordination of movement. 

What are the signs and symptoms of dystonia?

Dystonia affects different people in a variety of ways. The muscle contractions that characterize the disorder may:  

• Begin in a single area, such as your leg, neck or arm. Focal dystonia that begins after age 21 usually starts in the neck, arm or face and tends to remain focal or segmental
• Occur during a specific action, such as handwriting
• Worsen with stress, fatigue or anxiety
• Become more noticeable over time

Dystonia can also affect different areas of the body: 

• Neck (cervical dystonia). These contractions can cause your head to twist and turn to one side, or pull forward or backward, sometimes causing pain.
• Eyelids. Rapid blinking or involuntary spasms cause your eyes to close and make it difficult for you to see. Spasms usually aren’t painful but might increase when you’re in bright light, under stress or interacting with people, and your eyes might also feel dry.
• Jaw or tongue (oromandibular dystonia). You might experience slurred speech, drooling, and difficulty chewing or swallowing. Oromandibular dystonia can be painful and often occurs in combination with cervical dystonia or blepharospasms.
• Voice box and vocal cords (spasmodic dystonia). You might have a tight or whispering voice.
• Hand and forearm. Some types of dystonia occur only while you do a repetitive activity, such as writing (writer’s dystonia) or playing a specific musical instrument (musician’s dystonia). 

How is dystonia diagnosed?

Dystonia can often be misdiagnosed as stress, stiff neck, or a psychological disorder. To check for the disorder, your doctor will perform a series of tests including genetic testing, and testing blood, urine, cerebrospinal fluid. They may also perform an EEG (electroencephalography) or EMG (electromyography) and test for other health conditions. Additionally, a physician and dystonia specialist may observe the symptoms in a patient to diagnose the disorder.

How is dystonia treated? 

To manage your dystonia symptoms, your doctor may recommend a combination of medications, therapy, or surgery. 

Medications 

One of the most common treatments used to treat dystonia is Botulinum toxin type B (botox injections). This, along with other medications, can help control muscle movements and postures.  Injections are usually repeated every three to four months. Type B has a few mild to moderate side effects such as dry mouth, difficulty swallowing, and indigestion.

Other medications target chemicals in your brain (neurotransmitters) that affect muscle movement. These include: 

• Carbidopa-levodopa (Duopa, Rytary, others)
• Trihexyphenidyl and benztropine (Cogentin)
• Tetrabenazine (Xenazine) and deutetrabenazine (Austedo)
• Diazepam (Valium), clonazepam (Klonopin) and baclofen (Lioresal, Gablofen)

Therapy 

For dystonia, your doctor may recommend: 

• Physical therapy or occupational therapy or both to help ease symptoms and improve function
• Speech therapy if dystonia affects your voice
• Stretching or massage to ease muscle pain

Surgery 

Another way to treat dystonia is using a technique called deep brain stimulation (DBS). This involves implanting small electrodes into specific brain regions. The electrodes send minimal levels of electricity to the region that causes dystonia in order to block what causes the symptoms.

Selective denervation surgery, which involves cutting the nerves that control muscle spasms, may also be an option for dystonia that has not been responsive to other types of treatments. 

As with any disease or disorder, the sooner you can get treated the sooner you may be able to live without symptoms. Dystonia is no exception. A physician will be able to determine whether you have dystonia and offer the best prognosis for your form of dystonia. If you think you have symptoms of dystonia, talk to your healthcare provider as soon as possible. 

Sources 

• Dystonia – Classifications, Symptoms and Treatment. (n.d.). American Association of Neurological Surgeons.
• Essential tremor – Symptoms and causes. (2022, May 4). Mayo Clinic.
• Parkinson’s disease – Symptoms and causes. (2022, March 24). Mayo Clinic.
• Lanciego, J. L., Luquin, N., & Obeso, J. A. (2012). Functional neuroanatomy of the basal ganglia. Cold Spring Harbor perspectives in medicine, 2(12), a009621. https://doi.org/10.1101/cshperspect.a009621. 
• Flynn, T. C., & Clark, R. E., 2nd (2003). Botulinum toxin type B (MYOBLOC) versus botulinum toxin type A (BOTOX) frontalis study: rate of onset and radius of diffusion. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.], 29(5), 519–522. https://doi.org/10.1046/j.1524-4725.2003.29124.x. 
• ​​EEG (electroencephalogram). (2022, May 11). Mayo Clinic.