Dystonia is the third most common movement disorder, after essential tremor and Parkinson’s disease. Many clinicians and patients are unfamiliar with this condition, though, which is partly why it is under-recognized and undertreated. Even people with cervical dystonia (affecting the neck), the most frequent form of adult-onset dystonia, may visit multiple providers for up to or more than a year until they receive the correct diagnosis and the optimal treatment.
In cervical dystonia (sometimes referred to as spasmodic torticollis), certain muscles of the neck involuntarily contract. Depending on which muscles are involved, the head may be pulled, tilted or twisted to the side, forward, backward or some combination.
The resulting abnormal postures can range in severity. With mild disease, it might simply appear as though a person isn’t directly facing the camera in pictures (the driver’s license photo often provides a good example). When the head is more significantly rotated, someone might actually have to shift their body position to comfortably hold a conversation. A “sensory trick” — usually a light touch of the chin or the back of the neck — can alleviate dystonic postures, but this relief is not reliable.
Completing daily tasks and working can be challenging. Imagine a surgeon or hairstylist trying to concentrate when the visual field is being constantly pulled off of the task at hand. Having to fight against these muscle spasms regularly can lead to headaches and pain in the neck, shoulders and arms.
Cervical dystonia can occur in anyone at any age but most often it affects women in their 40s and 50s. The exact cause of cervical dystonia is unknown, but faulty communications in the motor circuits of the basal ganglia (the same area impacted in Parkinson’s) and the regions of the brain that process sensory signals may play a role.
Doctors rely on medical history and neurological examination to make the diagnosis. There is no specific test for cervical dystonia, although blood and imaging tests are often performed to exclude other diseases that can cause similar symptoms. Stress and certain drugs (antipsychotics and anti-nausea medications) can trigger or worsen dystonia in some people.
Treatment of choice for cervical dystonia is botulinum toxin injections into the overactive muscles of the neck. The effects are temporary, so injections need to be repeated every three to four months on average. For those who do not wish to undergo this treatment or who receive incomplete relief, oral medications may provide some benefit. Some examples include anticholinergics (trihexyphenidyl), spasmolytics (baclofen), muscle relaxants (benzodiazepines) and/or pain medications.
Physical therapy is often prescribed in conjunction with botulinum toxin injections and oral drugs. A regular exercise regimen and massage may be helpful as well. For those whose symptoms are resistant to all of the above options, deep brain stimulation may be considered.