Cervical Dystonia, also known as spasmodic torticollis, is focal dystonia characterized by neck muscles contracting involuntarily, causing abnormal movements and posture of the head and neck.
This term is used generally to describe spasms in any direction: forward (anterocollis), backwards (retrocollis), and sideways (torticollis). The movements may be sustained or jerky. Spasms in the muscles or pinching nerves in the neck can result in considerable pain and discomfort.
Symptoms
In cervical dystonia, the neck muscles contract involuntarily in various combinations. Sustained contractions cause abnormal posture of the head and neck, while periodic spasms produce jerky head movements. The severity may vary from mild to severe. Movements are often partially relieved by a gentle touch on the chin or other parts of the face.
If cervical dystonia causes any type of impairment, it is because muscle contractions interfere with normal function. Features such as cognition, strength, and the senses, including vision and hearing, are normal. While dystonia is not fatal, it is a chronic disorder and prognosis is difficult to predict.
Cause
Cervical Dystonia is believed to be due to abnormal functioning of the basal ganglia, which are deep brain structures involved with the control of movement. The basal ganglia assists in initiating and regulating movement. What goes wrong in the basal ganglia is still unknown. An imbalance of dopamine, a neurotransmitter in the basal ganglia, may underlie several different forms of dystonia, but much more research needs to be done for a better understanding of the brain mechanisms involved with dystonia.
A history of head or neck injury may be obtained, but the relationship between trauma and dystonia is still unclear. Research to examine the role of trauma is being conducted, including whether there is evidence that trauma may precipitate dystonia in those who have genetic susceptibility. This remains a gray area. It is clear that the interval from trauma to the onset of dystonia can be years.
Cases of inherited cervical dystonia have been reported, usually in conjunction with early-onset generalized dystonia, which is associated with the DYT1 gene.
Diagnosis
Diagnosis of cervical dystonia is based on information from the affected individual and the physical and neurological examination. At this time, there is no test to confirm diagnosis of blepharospasm, and, in most cases, laboratory tests are normal.
Usually the torticollis reaches a plateau and remains stable within five years of onset. This form of focal dystonia is unlikely to spread or become generalized dystonia, though patients with generalized dystonia may also have cervical dystonia. Occasionally, there may be associated focal dystonia.
Cervical dystonia should not be confused with other conditions which cause a twisted neck such as local orthopedic, congenital problems of the neck, ophthalmologic conditions where the head tilts to compensate for double vision. It is sometimes misdiagnosed as stiff neck, arthritis, or wry neck.
Treatment
Treatment for dystonia is designed to help lessen the symptoms of spasms, pain, and disturbed postures and functions. Most therapies are symptomatic, attempting to cover up or release the dystonic spasms. No single strategy will be appropriate for every case.
The goal of any treatment is to achieve the greatest benefits while incurring the fewest risks. It is to allow you to lead a fuller, more productive life by reducing the effects of dystonia. Establishing a satisfactory regimen requires patience on the part of both the affected individual and the physician.
The approach for treatment of dystonia is usually three-tiered: oral medications, botulinum toxin injections, and surgery. These therapies may be used in alone or in combination.
Complementary care, such as physical therapy and speech therapy, may also have a role in the treatment management depending on the form of dystonia. For many people, supportive therapy provides an important adjunct to medical treatment.
Although there is currently no known cure for dystonia, we are gaining a better understanding of dystonia through research and are developing new approaches to treatments.
Medications
A multitude of drugs have been studied to determine benefit for people with cervical dystonia, but none appear to be uniformly effective.
The categories of drugs reported to help relieve the symptoms associated with cervical dystonia include anticholinergic drugs [Artane (trihexyphenidyl), Cogentin (benztropine)]; dopaninergic drugs [Sinemet or Madopar (levodopa), Parlodel (bromocriptine), Symmetrel (amantadine)]; GABAergic drugs [Valium (diazepam)].
Botulinum Toxin Injections
Botulinum toxin injections are the primary and most effective form of treatment for cervical dystonia. Injections are made directly into the affected neck muscles. A crucial element to successful botulinum toxin injections is that the appropriate muscles are injected.
For this reason it is important that the physician administering the injections be experienced with botulinum toxin injections and be very knowledgeable about the anatomy of the neck and surrounding areas. The muscular structure of the neck is very complicated and physicians must also be aware of anatomical variation.
It may be necessary to inject different muscles at some visits. Extensive EMG tests are helpful, as is listening to the affected person.
To avoid BOTOX� immunity, it's best to use the lowest possible dose. A typical, fairly low dose is 150 units. Doses that exceed 200 units seem to increase the risk developing a resistance to the toxin, and too frequent injections (i.e. injections less than three to four months apart) are a real risk to antibody formation.
The term "resistance" means that the drug had no effect on the muscle injected. This is very different from a "inadequate" or "inappropriate" response. If the toxin is injected in the right dose and in the correct muscle, the patient should have a good result.
The side-effects of botulinum toxin injections are usually exactly what the therapy is supposed to cause: muscle weakness. It's crucial to inject into the right place and with the appropriate dose. Sometimes the botulinum injections can cause difficulty swallowing, and, over the long term, immunity may occur (in less than 5% of people treated).
Surgery
Surgery may be considered when patients are no longer receptive to other treatments, including botulinum toxin injections and medications. Surgery may lose its effects over the years, but it can possibly provide some relief.
Surgery is undertaken to interrupt, at various levels of the nervous system, the pathways responsible for the abnormal neck movements. Some operations intentionally damage small regions of the thalamus (thalamotomy), globus pallidus (pallidotomy), or other deep centers in the brain in an attempt to "rebalance" movement and posture control. These surgeries have had widespread use in Parkinson's disease, and the results in dystonia have been promising.
Other surgical approaches include severing one or more of the contracting neck muscles (muscle resection), cutting nerves going to the nerve roots deep in the neck close to the spinal cord (anterior cervical rhizonotomy), and removing the nerves at the point they enter the contracting muscles (selective peripheral denervation - The Bertrand Procedure).
Along with the type of torticollis a patient has, other factors influence the success of an operation. Every patient is unique and the muscles involved may vary from one patient to another. It is for this reason that the preoperative evaluation is important, so that the patient's head and neck movements and the muscular contractions causing it are identified and characterized. Also, surgery should only be considered when done by a neurosurgeon who has significant experience with these specific operations.
Complementary Therapy
Physical therapy may be helpful in the treatment of cervical dystonia. The goals of physical therapy for people with cervical dystonia are to help increase range of motion, to increase flexibility, to correct muscle imbalances, to improve posture, to increase balance, to enhance functional abilities in home and workplace, and to improve coordination. More is not better in physical therapy for people with dystonia, and "no pain, no gain" does not apply. Also, it is important to find a physical therapist who is experienced with dystonia.
The use and/or need for a soft cervical collar is sometimes helpful, especially if it is molded to provide the perfect fit.
The use of sensory tricks may also be effective in dealing with cervical dystonia, such as touching the chin or back of the head. Different sensory tricks work for different people, and if a person finds a sensory trick that works, it usually continues to work.
Support
By educating yourself with information, you have taken the first step in dealing with dystonia. Dystonia and its emotional offshoots affect every aspect of a person's life - how we think, the way we act, and how we cope.
Stress is an inevitable part of life, and although it clearly does not cause dystonia, it can aggravate dystonia symptoms. Stress-reduction programs such as relaxation techniques, meditation, and journal writing may be beneficial.
Sometimes depression can be a byproduct of dystonia. It, too, can aggravate symptoms and make them worse, but often, treating depression can result in an improvement of dystonia. It is important to remember that depression is a disease; it is treatable and not a reflection of one's self.
Thousands of people are experiencing similar symptoms, and you are not alone in coping with dystonia. Reassurance from family, friends, and others who have dystonia is beneficial. Support groups offer encouragement, camaraderie, and information about new treatments and medical advances. Both the National Spasmodic Torticollis Association and The Dystonia Medical Research Foundation maintain a network of support groups throughout North America along with many resources on-line.
"Know that you are more than dystonia, and do not allow dystonia to define you."
Related Questions
What is selective peripheral denervation surgery?
Selective peripheral denervation, a technique pioneered by Professor Claude Bertrand, is now called "The Bertrand Procedure." This procedure is not a standard one; it is tailored for each patient. As there are different types of torticollis and different movements, it is essential to properly identify the muscles involved carefully, that is to say, the agonist (the muscle mainly responsible for a particular movement) and the antagonist (the muscle responsible for the opposite movement).
The purpose of The Bertrand Procedure is to abolish abnormal movements in all the muscles involved in producing the movement while preserving innervation of those that do not participate. That's what the word "selective" refers to. Peripheral refers to something that is outside of the brain and spinal canal while denervation is cutting the impulse to certain muscles.
Physiotherapy, starting very soon after surgery, is essential in order to recover a full range of motion, since the brain must relearn a new position.
What criteria is used to determine if a person with cervical dystonia is a candidate for The Bertrand Procedure (selective denervation surgery)? The purpose of The Bertrand Procedure is to abolish abnormal movements in all the muscles involved while preserving innervation of those that do not participate.
The criteria used to determine if a person is eligible are the following:
1. The dystonia is mainly focalized to the neck;
2. The dystonia has been present for at least three years and is stabilized;
3. The patient had improvement with botulinum toxin injections, has become progressively resistant and no longer responds to it;
4. Failure of botulinum toxin injections is not an absolute counter indication to The Bertrand Procedure;
5. Pure rotatory torticollis;
6. Rotatory torticollis with "chin-up" movements;
7. Superior retrocollis;
8. Pure laterocollis;
9. Laterocollis associated with other abnormal movements.
Are ramiesectomy and rhizotomy surgeries still performed for cervical dystonia?
The rhizotomy procedure, in contract to SPD, is inside the spine. That means the destruction of muscle is more generalized. There is also a greater degree of weakness. With selective peripheral denervation, patients don't have permanent weakness. Morbidity and complications are also greater with rhizotomy.
What is the difference between rhizotomy and selective peripheral denervation?
Ramisectomy and rhizotomy involve cutting the nerve or nerves supplying overactive muscles. These surgeries are also rarely performed today. Nonetheless, they may be effective in properly chosen patients. They are most commonly performed for cervical dystonia patients who have developed resistance to botulinum toxin injections. Possible adverse effects include permanent weakness and difficulty swallowing.
What causes neck pain in cervical dystonia?
Pain in the neck (cervical) dystonia is very complicated. It can be generated by a lot of different structures in the neck. A dull ache results from muscle spasms. You can feel a tight band and some tenderness in the muscles, giving rise to the pain. Pain can also come from secondary contractions of other muscles, from nerves, and from degeneration of the neck spine, in which case arthritis produces pain. Shooting pain is more likely a nerve-generated pain. Neck dystonia can aggravate arthritis and make it get worse faster.
Is there a relationship between CD and arthritis?
Chronic torticollis can cause wear and tear to the neck and limit the range of motion. This may leave the joints more susceptible to arthritis. Oral medications can be used to relieve pain, but narcotics should be avoided-over-the-counter analgesics (i.e. acetaminophen, ibuprofen, and naproxen) are the best options.
Is there a relationship between CD and headaches?
It is common for people with CD to experience headaches-these headaches are usually quite treatable. Many people have trouble with pressure on the occipital nerve at the back of the head which can cause severe pain. Nerve blocks with local anesthetic may be helpful.
In a person affected by CD, how does one determine if relatively new pain in the shoulder is the result of arthritis or a new focal dystonia?
An EMG (electromyography) can measure the amount of muscle activity-an increase in muscle activity would suggest the presence of dystonia. It's common for people with torticollis to have shoulder problems.
People with cervical dystonia can develop other problems in the spine such as arthritis, ruptured disks, or pinched nerves. People with cervical dystonia who need neck surgery need to be handled with care:
� Certain anesthetics such as droperidol or Compazine (prochlorperazine) should not be used.
� A botulinum toxin injection a few weeks before the surgery may reduce spasms during healing.
� Traction and other forms of physical therapy should be avoided.
� Both physician and patient should be aware that the pain of surgery may activate the dystonia.
What shouldn't people do to treat CD?
Neck manipulation of the neck by a chiropractor who is not very familiar with dystonia can really aggravate the condition. Traction, also, is not a good idea. Massage, however, can sometimes provide temporary relief. If it feels good, do it.
Are cervical dystonia and fibromyalgia related?
No, but both disorders can cause pain in the neck muscles, and therefore cervical dystonia can be misdiagnosed as fibromyalgia. Many with cervical dystonia complain of muscle aching and even more severe pain in the neck muscles. This appears to be due to the pain fibers present in these muscles. Sometimes the muscle contractions and twisting movements in the neck have resulted in arthritis of cervical spine. This can be dangerous in that the resulting thickening of tissue and narrowing of the spinal canal can, by pinching the nerve roots, cause pain and even impinge on the spinal cord to cause paralysis of the legs.
My child developed torticollis at age 2. Is this similar to adult on-set spasmodic torticollis?
Early childhood-onset of neck dystonia is generally different from adult-onset. Congenital torticollis most commonly presents during the first few weeks of life possibly related to restricted head movements of the fetus or to trauma to the neck muscles at or about the time of birth. Congenital torticollis usually improves with physical therapy; however, surgery may be needed. The onset of torticollis during early-childhood is unusual. Causes may include hiatal hernia (with vomiting, feeding problems, and posturing of neck during feeding), double vision (producing head tilt), lack of oxygen or high bilirubin counts during the perinatal period (producing cerebral palsy), severe brain infection (encephalitis), head or neck trauma, toxin exposure, brain, or spinal tumors or vascular malformations, cysts of the third ventricle, and certain chemical disorders, such as Leigh's disease. These conditions may generally be assessed with brain and neck imaging and blood and urine analysis.
The BOTOX ADVANTAGE� Program - Patient Services
As BOTOX� is an effective form of treatment of many forms of dystonia, insurance reimbursement should not stand in the way of treatment.
Allergan, the manufacturer of BOTOX� (Botulinum Toxin Type A) Purified Neurotoxin Complex, sponsors a comprehensive reimbursement program for patients and providers called the BOTOX ADVANTAGE� Program. The BOTOX ADVANTAGE� Program includes a Reimbursement Hotline and Patient Assistance Program to assist patients who are receiving BOTOX� injections.
The BOTOX� Reimbursement Hotline is designed to respond to your reimbursement questions and help access BOTOX�, even when you do not have insurance coverage.
The Reimbursement Hotline will:
� Help you understand your coverage for BOTOX�. The Hotline will even contact your insurer to determine your policy's coverage;
� Work directly with your physician to obtain BOTOX� reimbursement and appeal any denied claims;
� Research alternate sources of reimbursement for BOTOX� if you lack insurance or cannot afford your payment responsibility;
� Help your physician determine your eligibility for the BOTOX� Patient Assistance Program if you have no BOTOX� coverage.
When calling the Hotline, be prepared to provide the details of your insurance, including your name, address, phone, and the insurance company's name, address, phone, and policy identification numbers. In addition, you will be asked for your physician's name, phone number, and information about your BOTOX� treatment, including diagnosis.
Simply call 1-800-530-6680 or fax 877-530-6680. A BOTOX� reimbursement specialist will be available between 9 a.m. and 8 p.m. ET, Monday through Friday. If all reimbursement specialists are busy assisting other customers, or you are calling outside of these hours, please leave a message and your call will be returned within one business day. Also, log on to www.botox.com for additional information.
Cervical Dystonia
the muscles tighten in fear
spasms begin like small sparks
then jolts, like lightening appear.
The body cringes and cries
there's no where to hide
"Hang on tight
we're in for a hell of a ride!!!"
KDS 7/3/00
