Cervical dystonia: A challenging neck condition

Judy, a middle-aged school teacher, faces every September with a sense of trepidation - not because she doesn't enjoy her job, but because she inevitably needs to explain to each new batch of students why her head shakes.

Judy has cervical dystonia, a movement disorder causing involuntary, sustained muscle contractions that make the head wobble or rest in abnormal positions. It's the most common type of dystonia, a movement disorder that causes muscles to contract. Cervical dystonia (also called spasmodic torticollis) is considered rare, affecting only about 60,000 people in the United States, according to the National Organization for Rare Disorders, a nonprofit research and advocacy group.

But Dr. Samuel Frank, Judy's doctor and a neurologist and movement disorders specialist at Harvard-affiliated Beth Israel Deaconess Medical Center, believes the statistics belie the truth and the condition is underdiagnosed. "I think many cases are relatively mild and don't get recognized like they should until they become more severe," he says.

Dr. Frank notes that living with a visible but unpredictable condition can be among the hardest aspects of having cervical dystonia. "People with the condition cope with anxiety, embarrassment, and frustration," he says. "The need to explain your symptoms to others is one of its major impairments."

Cervical dystonia symptoms

While cervical dystonia can happen at any age, it's typically diagnosed at midlife and is twice as common in women. But scientists still don't know what causes it, Dr. Frank says, although genetics seem to play a role in some cases. In rare cases, cervical dystonia can occur after a head or neck injury, surgery, or viral infection.

Mild for some people and more severe for others, cervical dystonia symptoms can vary. They generally start slowly and build up over the first two years. "When it starts, people often think they just slept funny. Then it sticks around," Dr. Frank says.

Cervical dystonia can cause

• pulling or twisting of the neck to one side, forward, or backward
• continuous or intermittent muscle spasms
• trembling or jerking of the head
• restricted movement of the neck and head
• neck pain that can radiate to the shoulders
• headaches.

Such symptoms are almost invariably disruptive, making it harder to do simple activities such as dress, reach for objects, or drive. "It's socially impairing, too," he says. "People don't want to go out to dinner with friends, or they worry that others think they're saying 'no' because their head is shaking."

Cervical dystonia treatment

Diagnosing cervical dystonia is typically straightforward, based on range of motion in the neck, whether the person has tremor or pain, or if the head appears lopsided. But doctors may also perform imaging scans or additional tests to rule out other conditions. Dr. Frank recommends seeing a neurologist - preferably one who's also a movement disorders specialist - for the most accurate assessment.

Treatment is often clear-cut as well, he says. The vast majority of cervical dystonia patients respond to periodic injections of botulinum toxin (Botox, Dysport, Xeomin, Daxxify, Myobloc) in the neck and shoulder area, which temporarily relax affected muscles and can relieve symptoms for three to six months. "It's unusual for the injections to have no effect," Dr. Frank says.

Oral medications such as muscle relaxants or pain relievers may also help, but doctors prescribe these mainly for people who don't find relief from botulinum toxin injections. Cervical dystonia patients with severe cases may undergo deep brain stimulation, which involves surgical implantation of electrodes that regulate abnormal nerve signals.

Image: © cyano66/Getty Images