One morning in 2009, Rogers Hartmann noticed a crick in her neck. “I just assumed I'd slept on it wrong,” she recalls. But it didn't go away. “Over the next few months, my neck and torso began to twist and tilt to the right so far that my head was almost upside down.”

Hartmann, now 52, saw six different neurologists before one diagnosed her with dystonia, a movement disorder that causes muscles to contract and contort involuntarily. “At the time I was a television and film agent living in Los Angeles, but my dystonia left me confined to my bed with a phone to my ear to keep doing business,” she says. “I was constantly hitting my head on doorways. I could not sit or drive. It was challenging to find any position that was tolerable.”

She had botulinum toxin (brand names include Botox, Daxxify, Dysport, Jeuveau, Myobloc, and Xeomin) injections in her muscles, which helped relieve spasms. She also took the antispasmodic drug trihexyphenidyl (Artane), as well as high doses of clonazepam (Klonopin), which is prescribed mainly for seizures and panic disorders. However, the drug combination affected her memory and sleep patterns.

Eventually, Hartmann moved back to her hometown, Dallas, to be closer to her family. When her condition deteriorated, she moved to an assisted living facility. “It was disorienting, to say the least, to go from working for almost 25 years in a highly competitive business in Los Angeles to being somewhat dependent on others,” says Hartmann.

To get her life back, Hartmann asked her medical team about deep brain stimulation (DBS). After a lengthy process of testing and brain mapping, Hartmann underwent DBS, which proved effective and allowed her to live independently again.

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On the Brain & Life Podcast writer, producer, and dystonia advocate Rogers Hartmann describes her struggles with generalized dystonia that caused her head to tilt below her waist and the treatments she received to allow her to stand straight again.

Barbara Kimmel, a 62-year-old writer in Atlanta, first experienced alarming symptoms in 2009, when her eyes suddenly closed while she was driving on the highway. “I managed to pry one eyelid open with my hand while steering with the other until I could get home safely,” she says. “It was so frightening, I haven't driven since.” Her eye problems persisted, and she began to have contractions in her neck and lower face, leaving her with a grimace and difficulty chewing.

She saw numerous doctors who dismissed her symptoms. “My primary care physician at the time told me it was all in my head and referred me to a psychiatrist,” says Kimmel. Finally, she sought out a vestibular therapist, who works with people who have dizziness and balance problems, who referred her to a neurologist. “The neurologist took one look at me and suspected I had dystonia,” Kimmel says. Her eye symptoms were diagnosed as blepharospasm, a type of dystonia in which the muscles that help close the eyelids involuntarily contract.

Kimmel now gets botulinum toxin injections as treatment, but she's tailored much of her life to staying at home. “My neck is in constant pain, so it's better for me to lie down or sit in a tall chair,” she says. She does deep breathing and stretching exercises designed by a physical therapist, and practices mindfulness activities like walking in nature and dancing to soothing music. “Dystonia is a hard thing to explain to others,” says Kimmel. “People don't always understand it.”

As many as 250,000 people in the United States have dystonia, which makes it the third most common movement disorder after essential tremor and Parkinson's disease, according to the American Brain Foundation. But despite its prevalence, people often struggle for months, if not years, to get a diagnosis. “Many primary care physicians aren't familiar with the condition and may not realize that patients need to see a neurologist,” says Mark Hallett, MD, FAAN, a dystonia expert and former chief of the medical neurology branch at the National Institutes of Health.

Making it even more confusing, there are several kinds of dystonia, he adds. Generalized dystonia affects most of the muscles of the body, while focal dystonia is usually confined to a specific body part. Focal dystonia includes blepharospasm, which affects eyelid muscles; cervical dystonia, which affects the neck muscles; and oromandibular dystonia, which affects the jaw, lip, and tongue muscles. Cervical dystonia, or torticollis, is the most common focal dystonia, causing the head to twist to one side or be pulled forward or backward. Other types include cranial dystonia, which affects the muscles of the head, face, and neck; spasmodic dysphonia, which affects the vocal cords; and task-specific dystonia, which manifests during a certain activity, such as writing or running.

“We know dystonia occurs because of an abnormality in how different regions of the brain communicate with one another,” says David Eidelberg, MD, FAAN, a neurologist at Northwell Health in Manhasset, NY. The abnormality may stem from the basal ganglia, the group of structures near the brain's center that manages the signals that help move muscles, says Dr. Hallett. A review in the Journal of Neurology, Neurosurgery, and Psychiatry in 2018 suggested that dystonia also may have contributing causes from problems with the cerebellum, the part of the brain that controls balance and other complex motor functions.

Genetic Component

Many forms of dystonia appear to be inherited, with just one copy of an abnormal gene enough to cause someone to develop the disease, says Dr. Eidelberg. But severity can vary widely in the same family, he says. Hartmann, for example, has a brother and a nephew who also have dystonia, but with far less dramatic symptoms. Genetic types of dystonia include early-onset isolated dystonia and dopa-responsive dystonia (also known as Segawa syndrome), both of which usually begin in childhood; torsion dystonia type 6, which affects head, neck, and arm muscles; and X-linked dystonia parkinsonism, which has some symptoms—such as slowness of movement and muscle stiffness—similar to those of Parkinson's disease.

Dystonia also can be a symptom of an underlying condition such as Parkinson's disease or stroke. In some cases, dystonia has no known cause. “It could be due to a gene mutation we haven't discovered yet,” says Dr. Eidelberg.

Usually symptoms—such as foot cramps, worsening handwriting, an involuntary neck turn, uncontrollable blinking or eye spasm, a tremor, or trouble speaking—develop gradually and may worsen with fatigue or stress. The disease is diagnosed by a neurologist after a thorough medical exam, including blood and urine tests, MRI or CT scans to rule out a tumor or stroke, and sometimes electromyography to measure electrical activity in the muscles, or genetic testing.

Since there are no biomarkers or standard diagnostic tests for dystonia, it's not uncommon for physicians to miss it, says Kristina Simonyan, MD, PhD, a neuroscientist at Massachusetts Eye and Ear and Harvard Medical School.

Sydney Peterson, 21, a college student from Lake Elmo, MN, began to have pain and trouble moving her left arm when she was 13. “I cycled through a bunch of different specialists, ranging from neurologists to doctors who focused on pain disorders,” she says. Not until she was 19 did her current neurologist determine she had dystonia, after several MRIs and an electromyography test.

To help make the diagnosis process easier, Dr. Simonyan and colleagues have developed a program called DystoniaNet, which uses artificial intelligence (AI) to study the brain MRIs of people with symptoms of dystonia. “It looks for specific brain abnormalities that can indicate the condition,” she says. Using a training set of 160 people with spasmodic dysphonia and 160 healthy controls, the program diagnosed dystonia with 98.8 percent accuracy, according to a study by Dr. Simonyan that was published in the journal PNAS in 2020. The results remain experimental since the MRI scans of most patients with dystonia are considered clinically normal, says Allan Wu, MD, FAAN, professor of neurology at Northwestern University's Feinberg School of Medicine in Chicago. “This work requires replication and validation before it can be considered for clinical purposes,” he says.

No treatments can cure dystonia or prevent or slow its progression, but some, including botulinum toxin injections, can address symptoms. “Botulinum blocks release of acetylcholine, a neurotransmitter in the brain that causes muscles to contract,” says Cynthia Comella, MD, FAAN, a neurologist at Rush University in Chicago. Injecting it into a muscle every three to four months temporarily weakens or paralyzes the muscle. A study published in Parkinsonism & Related Disorders in 2023 found that botulinum toxin injections not only reduced motor difficulties but also eased anxiety associated with the disorder.

“It usually takes several cycles of injections to see whether there's a benefit, which is one reason some patients decide not to pursue this treatment,” says Dr. Simonyan.

To try to predict which patients with focal dystonia would benefit from these injections, Dr. Simonyan and colleagues developed DystoniaBoTXNet to analyze the patients’ brain MRIs for patterns specific to Botox treatments. According to the study published last year in the Annals of Neurology, DystoniaBoTXNet was able to identify quickly and with 96.3 percent accuracy which patients would respond well to the treatment. This is a promising use of AI, Dr. Wu says, but it is unlikely that it can be applied clinically at this time.

Drug Alternatives

Medications that target neurotransmitters affecting muscle movement are often prescribed off-label, meaning they're not approved by the U.S. Food and Drug Administration (FDA) to treat dystonia. They should be used sparingly, though, because they can be sedating and affect cognitive functions, says Michele Tagliati, MD, FAAN, a neurologist and dystonia specialist at Cedars-Sinai Medical Center in Los Angeles.

These drugs include trihexyphenidyl and benztropine (Cogentin), which block the effects of acetylcholine (but can cause drowsiness, dry mouth, constipation, cognitive problems, and visual hallucinations), and the benzodiazepines diazepam (Valium), lorazepam (Ativan), clonazepam, and baclofen (Lioresal, Gablofen), all of which regulate GABA, a brain chemical whose function tends to be impaired in people with dystonia. Benzodiazepines and baclofen can cause unwanted sedation and induce tolerance, meaning people need to take progressively higher doses to achieve the same benefit.

Although the link between dopamine and developing dystonia remains unclear, medications targeting the dopaminergic system also can be helpful. Depending on the person's condition, a drug could be prescribed off-label to either raise levels of the neurotransmitter dopamine—which helps control muscle movement—or block it. This apparent paradox is due to the fact that dystonia can be associated with either abnormally decreased or abnormally increased dopaminergic activity, Dr. Tagliati explains. Carbidopa-levodopa (Sinemet, Rytary) is a medication designed to increase levels of dopamine, while tetrabenazine (Xenazine) is a dopamine blocker. Levodopa can cause nausea, headaches, and dizziness. Similar to anticholinergics and benzodiazepines, Xenazine has a whole range of side effects, from sedation and depression to nervousness and insomnia, says Dr. Tagliati.

If symptoms don't respond to botulinum toxin injections or oral medications, neurologists may recommend DBS, which delivers controlled amounts of electricity through electrodes surgically implanted into the part of the brain responsible for dystonia, says Dr. Hallett. A pacemaker-like device is placed under the skin of the upper chest with a wire that connects to the electrodes. A review published in Frontiers in Human Neuroscience in 2021 looked at 35 studies and concluded that subjects with focal dystonia showed more improvement in symptoms after DBS than people with segmental dystonia (affecting two or more parts of the body near one another). The authors concluded that those who experienced significant improvement in movement symptoms might also see improvement in disability symptoms.

After Hartmann underwent DBS in 2015, she was able to move out of assisted living. “It got me out of my wheelchair and back on my feet,” she says. She had a second DBS implant about three years ago to replace frayed leads that connected to her left brain electrode. Today Hartmann works as a writer, teacher, and dystonia activist and enjoys walking her 120-pound Great Pyrenees dog. She is also training for a local pickleball league. “I sometimes forget that I have dystonia until I see myself on camera somewhere and realize I look a bit tilted,” she says, laughing.

Physical, occupational, and speech therapy are other common treatments for dystonia symptoms. A small study published in Parkinsonism & Related Disorders in 2019 found that people with cervical dystonia who did physical therapy along with getting botulinum toxin injections reported greater improvements in symptoms than those who just had injections.

Physical therapy can strengthen muscles and improve range of motion, says Lincoln Beal, DPT, director of the dystonia program at Re+Active PT in Los Angeles. “People with dystonia also have difficulty processing sensory information in the affected area, which we can help by changing sensory input,” Dr. Beal says. “For example, we can add vibration to neck muscles during exercise to ease cervical dystonia or add weight to the wrist of a musician trying to play a piece. These sensory tricks may help normalize motor control and movement over time.”

Occupational therapy can help people learn new ways to perform everyday activities such as eating and dressing so they can maintain independence, says Dr. Beal. And speech therapy can strengthen vocal cords in people with spasmodic dysphonia.

In addition to DBS, Hartmann has explored the concept of mindfulness. “Transcendental meditation has taught me to be more conscious of the power of my thoughts,” she says. Her negative thoughts and stress used to greatly affect her, but mindfulness has created more positive pathways. “The key is thinking about something that brings me happiness, rather than things that do not serve me. My belief in neuroplasticity has enriched all areas of my life,” she says.

Hartmann founded and runs Beat Dystonia, a nonprofit that raises research funds. She also serves as a patient advocate and has a database of doctors to whom she can refer newly diagnosed people. “Information is power,” she says. “The more I learned about dystonia, the more in control I felt about my life. I want to pass that knowledge on to others.”

A skier since childhood, Sydney Peterson hasn't let dystonia slow her down. She manages symptoms with botulinum toxin injections as well as baclofen and levodopa. Although she wears a foot orthotic and does most things with one hand, she competes on her college's cross-country ski team. “I use only one pole to ski now, and I use a brace to help align my foot on my left leg,” she explains. “But I make it work.” Last year, she won gold, silver, and bronze medals at the Paralympic Games in Beijing.

As Hartmann says, “You can still live a very full life. Keep a sense of humor, a positive attitude, and give back to others. That is where my true happiness lies.”

3 Promising Treatments for Dystonia

DaxibotulinumtoxinA-Ianm (DAXI).
This new form of botulinum toxin was recently approved by the FDA for treating cervical dystonia. In phase 3 clinical trials, the benefits—reduced severity, disability, and pain—lasted as long as six months, nearly twice as long as what's currently available. “Patients may not need injections as frequently, and they'll be less likely to notice a waning effect toward the end of their dose,” says Cynthia Comella, MD, FAAN, a neurologist at Rush University in Chicago.

Focused ultrasound.
Already used to treat Parkinson's disease, this technology that directs ultrasound energy to specific targets deep in the brain is now being studied to treat dystonia. “Unlike deep brain stimulation (DBS), focused ultrasound doesn't involve surgery or require electrodes in the brain, and may be useful for patients who cannot undergo DBS,” says Dr. Comella. A clinical trial for hand dystonia will launch later this year in the United States. Another clinical trial in Japan is ongoing to treat people with cervical dystonia.

Perampanel (Fycompa).
This epilepsy medication works by decreasing abnormal electrical activity in the brain and can ease pain in people with dystonia, according to a study published in Movement Disorders Clinical Practice in 2021. But the side effects—dizziness, imbalance, irritability—made it intolerable for many. “We think the dose was increased too rapidly in studies,” says Dr. Comella. The drug isn't being tested in clinical trials now, she says, but future research may study it for dystonia at a lower dose, which may limit side effects.

Resources for Dystonia

• American Dystonia Society; 310-237-5478
• Dysphonia International; 800-795-6732
• Dystonia Medical Research Foundation; 312-755-0198
• National Institute of Neurological Disorders and Stroke; 800-352-9424
• National Organization for Rare Disorders; 617-249-7300
• National Spasmodic Torticollis Association; 657-554-0661