Noel Valero will never forget the day in 1989 when he clenched his jaw so hard he cracked a front tooth in half. Soon he began biting his lip and blinking involuntarily. His face often hurt, especially when he smiled.

Even with both bachelor's and master's degrees from Princeton University in mechanical and aerospace engineering—yes, he's a rocket scientist—Valero, at age 30, was confounded by his symptoms, which worsened over the next 15 years. He experienced new, unexplained pains in different parts of his body, a trembling right arm, and a noticeable upward tilt of his head that eventually caused him to accidentally tumble down the stairs.

"I was a royal mess," he says.

Valero sought help, but doctors were unable to pinpoint the problem for many years. Fate intervened at his 25th college class reunion, when he was 46. One concerned classmate who worked in healthcare arranged for Valero to have a thorough neurologic examination at Harvard Medical School and Massachusetts General Hospital. A second referral sent him to Columbia University Medical Center, where Steven J. Frucht, M.D., diagnosed him with dystonia. Dr. Frucht is now professor of neurology and director of the movement disorders division at Mount Sinai School of Medicine in New York City. He still treats Valero; in fact, the pair's six-year "anniversary" just passed.

Dystonia in Children

"Children don't have isolated cervical dystonia the way adults do," says Naomi Lubarr, M.D., a specialist in pediatric neurology and movement disorders at Beth Israel Medical Center of Continuum Health Partners in New York City.

Congenital dystonia (also called congenital torticollis) can occur in babies in the first one to two months of life, but it's not the same condition as adult dystonia, according to Dr. Lubarr. The definitive cause is unknown, but the position of the fetus in the womb or birth-related injuries to the baby's neck muscles may play a role.

The condition is treated with home stretching, physical therapy, and surgery in rare cases. "Stretching of the tight neck muscle and attention to the baby's positioning typically resolves it," says Dr. Lubarr.

A second type of dystonia in children is acquired dystonia (acquired torticollis), which has a wide variety of possible causes. It most commonly results from injury or inflammation of neck muscles and typically resolves after treatment with nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, and a cervical collar. Less common and potentially more serious causes include infection or inflammation of the soft tissues of the neck, skeletal injuries or abnormalities, other neurologic conditions, or disorders of the eye, Dr. Lubarr says.

Valero was diagnosed with dystonia affecting multiple parts of his body—in his case, the eyelids, jaw, right arm, back, and neck muscles. Like Parkinson's disease and essential tremor, the dystonias are movement disorders, a group of neurologic conditions that cause impaired movement. The dystonias cause abnormal and often repetitive movements, postures, or both. They can also cause poor self-image, depression, anxiety, social isolation, and reduced overall quality of life. Cervical dystonia is the most common form, diagnosed in 30 to 40 percent of dystonia patients. It causes neck muscle spasms, tightness or pulling, pain, and even tremors. 

Although treatment has improved Valero's symptoms, he decided to retire from the Internet consulting business he founded in 1991 to reduce the stress on his body. Now, age 53 and living near Princeton, NJ, Valero balances a recurring cycle of activity, fatigue, and recovery with a can-do attitude and unwavering determination to spread awareness of dystonia.

As an advocate, Valero has turned disability into opportunity. He founded the American Dystonia Society in 2009 and continues his personal mission to educate one or two people every day. He tries to answer people's questions and hand out wrist bands or business cards whenever possible.

"If someone stares at me, most of the time it's a conversation-opener," Valero says. He hopes to raise awareness of dystonia among healthcare providers and medical students as well as patients and care partners.

Valero emphasizes the importance of finding a doctor with experience treating dystonia. "Originally, I thought any movement disorders specialist could help me, but that just wasn't true in my case. I finally got the right help, but a lot of people don't have the opportunity I had," he says.

Under- and Misdiagnosed

Because dystonia is not as well-known as many other neurologic conditions, the journey to a diagnosis can be long, according to Michele Tagliati, M.D., movement disorders director at Cedars Sinai Medical Center in Los Angeles and Fellow of the American Academy of Neurology (AAN). The disease is often misdiagnosed, experts say. Cervical dystonia symptoms can mimic neck sprain, slipped disk in the neck, tremor, and Parkinson's disease.

"Symptoms—in particular, if tremors are present—can also be mistaken for drunkenness," Dr. Tagliati says. "Sometimes, a doctor unfamiliar with cervical dystonia may say to a patient, 'You didn't sleep well,' or 'You slept wrong and just have a stiff neck.' Some patients even undergo unnecessary orthopedic surgery for neck pain."

Obtaining a diagnosis can test the strongest will, as Howard Thiel of Milwaukee, WI, can attest. He consulted 41 different healthcare providers in almost nine years before learning he had cervical dystonia in 1987 at the Mayo Clinic in Rochester, MN. He uses the older term for cervical dystonia: spasmodic torticollis (ST). In Latin, "torus" means "twisted" and "collum" means "neck."

His symptoms began in his 40s, but by the next decade, Thiel, now age 82, faced intolerable neck pain that also pierced his shoulder blades and the back of his head. That wasn't all: his head often pulled to the left, making driving particularly dangerous. "I would end up looking the wrong way on the expressway," he remembers. The only way he could get it back into position was through force, he says.

"But when I did this, the pressure inside my head became unbearable. My head felt like it was going to explode, and my skin felt like it was on fire," Thiel recalls. "No one could help me. I visited many doctors, chiropractors, and psychiatrists who said, 'There's nothing wrong with you.'"

But there was, and he knew it, and eventually he found out why. After being diagnosed, he founded a support group in his hometown that attracted new members very quickly. He officially incorporated ST Dystonia in 1987. The organization went national in 1998.

The Role of Genes

Cervical dystonia most commonly occurs during a person's 30s, 40s, or 50s, says H. A. Jinnah, M.D., Ph.D., a professor in the departments of neurology, human genetics and pediatrics at Emory University School of Medicine in Atlanta, GA. A member of the AAN, he is also the director of the Dystonia Coalition, a collaboration of medical researchers and patient advocacy groups funded by the National Institutes of Health (NIH) to advance clinical and translational dystonia research.

"We're still unsure of what causes dystonia, but we suspect a genetic predisposition combines with 'something' that happens during the patient's lifetime, such as a trauma or very stressful event," Dr. Jinnah says. "That person could have been exposed to a chemical or have had an infection or an injury. But two genes acting together could also cause dystonia, we believe."

Researchers view gene mutations as the most common and complicated culprit. Recently, four new dystonia genes were identified, Dr. Jinnah says, ANO3, CIZ1, TUBB4a, and GNAL.

"Among these, ANO3 is specifically associated with cervical dystonia. The others cause mixed dystonias that include cervical."

Other genes have been identified. In 1997, researchers discovered that mutations in DYT-1 cause generalized dystonia, but rarely cervical. They also discovered that DYT6 mutations may result in cervical and limb dystonia.

Treatments of Choice

The most common cervical dystonia treatments include medications, injections of botulinum toxin, and a type of brain surgery called deep brain stimulation (DBS).

Several classes of drugs that affect neurotransmitters—chemical messengers that transmit nerve impulses across the gaps between cells—may be effective. Anticholinergic drugs such as benztropine (brand name Cogentin), benzodiazepine drugs such as diazepam (Valium), dopaminergic drugs such as levodopa (Sinemet), and baclofen (Lioresal) may be used. However, these drugs aren't specifically approved by the U.S. Food and Drug Administration (FDA) to treat dystonia. In addition, like all drugs, they have side effects. Some of the common side effects of these drugs include memory problems, weight gain, and—ironically—involuntary and repetitive muscle movements.

Best known for cosmetic surgery, botulinum toxin injections (Botox, Dysport, Myobloc, and Xeomin) are often prescribed to treat cervical dystonia. Both Noel Valero and Howard Thiel say they have been helped by injections of botulinum toxin. Researchers believe it decreases muscle spasms by blocking the release of the neurotransmitter acetylcholine, which normally causes muscles to contract.

"Botulinum toxin injections have completely transformed treatment in the last 25 years. They provide a sustained response in up to 80 percent of patients when we determine the right amount of the dose and how often to give the dose," says Dr. Frucht. "Because of botulinum toxin, we don't see as many patients suffering with severe cervical dystonia any longer—with necks turned almost all the way around."

Early on, doctors worried that antibodies produced by the body could cause resistance over time, making the treatment ineffective. But this issue has become less of a concern in the last 10 years, Dr. Tagliati says.

"The downside to botulinum toxin injection is that you must repeat every three months. If you don't, the cervical dystonia will return, with very few exceptions," Dr. Tagliati says. "Sometimes, cervical dystonia can become so mild that you spread injections between four to six months. But I never promise that."

For the 15 to 20 percent of patients who don't respond to botulinum toxin, DBS may be an option. Cervical dystonia is associated with abnormal electrical activity in two areas of the brain that control movement: the globus pallidus internus and the subthalamic nucleus. DBS surgically implants small electrodes connected to a pulse generator into one of those two brain areas. Controlled amounts of electricity then target and block the electrical signals that cause symptoms. More accurate electrode placement leads to better outcomes—and doesn't destroy parts of the brain.

Risk of stroke from DBS is approximately 1 to 3 percent, and the risk of infection is 4 to 5 percent. The surgery received an FDA "Humanitarian Device Exemption" and may be covered by insurance.

Still, not everyone should undergo DBS, says Dr. Jinnah. "Some patients will have better outcomes than others, and we try very hard to determine who's right for this. Electrode placement is so important; being off as little as 1 to 2 millimeters can make a big difference. Equipment settings and amount of electricity are also critical factors."

Dr. Tagliati, considered an expert in DBS device programming, co-authored the largest long-term follow-up report of patients with the most common form of hereditary dystonia. The paper, published in June in the medical journal Neurosurgery, cited "statistically and clinically significant improvement that was maintained up to eight years."

The movement disorders program at the University of California San Francisco (UCSF) is testing an alternative method for DBS electrode placement performed entirely inside a high-resolution MRI scanner, while another study evaluates the safety and effectiveness of DBS of the subthalamic nucleus for dystonia.

Patients whose dystonia occurs without brain abnormality on MRI may benefit more from DBS than patients whose brain abnormalities are visible, say UCSF investigators on their website.

Dystonia Research Ramps Up

Four years into its original plan, the Dystonia Coalition is currently requesting another five years of NIH funding to continue its mission. The coalition has made it possible for groups who might otherwise remain fragmented to unite under one banner in a more comprehensive and effective spirit of cooperation, says Dr. Jinnah.

"One voice is more likely to be heard at funding agencies than multiple voices. We're looking for good ideas—wherever they come from," he says.

The coalition, which currently includes more than 50 participating academic medical centers and 15 patient support groups, is currently spearheading four major research projects: Natural History of Primary Dystonia, Biorepository for Primary Dystonia, Comprehensive Rating Tools for Cervical Dystonia, and Diagnostic and Measurement Tools for Spasmodic Dysphonia. Dr. Jinnah is especially optimistic about the biorepository or "biobank"—a collection of samples given by patients that helps identify responsible dystonia genes.

"When we need patients with a rare disease in order to study blood or tissue or to scan, very few institutions have this kind of access to large numbers," he says, adding that his goal is to collect 1,000 samples for each of five types of dystonia.

Also on his future wish list is better symptomatic therapy to make patients feel better—even though it wouldn't cure the problem.

"I'd like an oral medication to suppress symptoms safely like we have in other areas of neurology," he says, adding that he's aware of at least three companies working on that goal. His second "wish-list" item would be a curative, disease-modifying medication to solve the underlying problem.

So many patients with dystonia wish for the same, including Noel Valero and Howard Thiel.

Dystonia: The Basics

What is dystonia? According to a new international definition from the Movement Disorders Society, dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The movements are typically patterned and twisting, and they may involve tremors.

The symptoms seem to be caused by an overflow of muscle activation. "You want a muscle to do one thing, but in dystonia, extra muscles get involved when they shouldn't," says H. A. Jinnah, M.D., Ph.D., of Emory University School of Medicine in Atlanta, GA.

The dystonias may be categorized by cause (inherited, acquired, or idiopathic, which means with no known cause), age of onset (early or adult), or body region affected. The focal dystonias each affect a different region:

• Cervical dystonia affects the neck. Also called spasmodic torticollis or torticollis, it is the most common form of dystonia.
• Blepharospasm affects the eyes.
• Spasmodic dysphonia affects the vocal cords.
• Limb dystonia affects the arm or leg, hand or foot. Examples include writer's cramp or musician's dystonia that's triggered by playing an instrument.

Dystonia that occurs in more than one part of the body is called generalized dystonia.

How common is dystonia? Dystonia is the third most common movement disorder; Parkinson's disease is the most common, and essential tremor is the second. At least 300,000 people in North America have been diagnosed with dystonia, but up to 1 million may not know they have it or have been misdiagnosed. It occurs more often in women, but many men have dystonia as well. Dystonia occurs most often in middle age.

How is dystonia diagnosed? Patients may be referred to a neurologist, who will first take a thorough medical history. A neurologist may ask about a history of stroke, head or brain injury, recreational drug use, or exposure to dangerous toxins. He or she may then perform tests including a blood or urine test, computerized tomography (CT scan), magnetic resonance imaging (MRI), and electromyography (EMG).

What treatments are available? Although dystonia cannot be prevented or cured, the three most common treatments to decrease the symptoms of dystonia are medications, botulinum toxin, and deep brain stimulation (DBS) surgery.

What research is being done? Researchers are looking for genes that contribute to the risk of dystonia; others are investigating better treatments. To find out more, visit the Dystonia Coalition website at and ClinicalTrials.gov from the National Institutes of Health.

For More Information

Listen to podcasts with Dr. Jinnah and Noel Valero about cervical dystonias.

Dystonia Resources

• Benign Essential Blepharospasm Research Foundation (BEBRF), (409) 832-0788 
• Cure Dystonia Now (CDN), (516) 584-4156
• Dystonia Medical Research Foundation (DMRF), (312) 755-0198 
• National Spasmodic Dysphonia Association (NSDA) (800) 795-6732
• The National Spasmodic Torticollis Association (NSTA)
• ST Dystonia: Howard Thiel
• Tyler's Hope for a Dystonia Cure