Torticollis. Why is the neck crooked?
You may have encountered the condition known as a "crooked neck" among people you know. This is a (often painful) disorder in which the neck muscles on one side contract, causing the head to turn or tilt to the side. The loss of balance between the muscles on the two sides (cervical dystonia) results in the head uncontrollably bending to the side, forward, or backward. In medical terminology this condition is called torticollis.
You may have encountered the condition known as a "crooked neck" among people you know. This is a (often painful) disorder in which the neck muscles on one side contract, causing the head to turn or tilt to the side. The loss of balance between the muscles on the two sides (cervical dystonia) results in the head uncontrollably bending to the side, forward, or backward. In medical terminology its name is torticollis.
This is a rare disorder that can develop at any age, most commonly appearing in middle-aged adults and affecting women more often than men. Symptoms usually develop gradually and then reach a point where they do not significantly worsen. It affects thousands of people each year, primarily involving the nerves supplying the neck and/or shoulder muscles, causing twisted postures and repetitive movements. As a result, the muscles become fixed in an abnormal position that is usually very painful and often accompanied by tremor.
Symptoms of torticollis
Cervical dystonia usually develops gradually and is marked by increasing involuntary spasms of the neck muscles that lead to abnormal head and neck postures/positions. In addition, the following may occur:
- Restriction of head and neck movements, making it difficult to look over your shoulder while driving or during other activities, and making simple tasks such as dressing, reading a book, or using a computer more difficult.
- Symptoms typically worsen with stress.
- They generally improve after rest or sleep.
You may experience some or all of these complaints, and their severity varies from person to person.
Because of torticollis the head may be turned in several directions, including:
- chin pulled toward one shoulder,
- ear toward the shoulder,
- chin straight up,
- chin straight down.
The most common deviation is the chin being pulled toward one shoulder. In some people, a combination of abnormal head postures may occur, sometimes accompanied by jerking movements of the head.
Depending on the muscles involved, cervical dystonia can present in many different forms.
Many people experience neck pain in addition to the twisting, which can radiate into the shoulders. The disorder can also cause headaches. For some, the pain can be so debilitating that it leads to disability.
Causes of cervical dystonia
In most people with cervical dystonia the exact cause is unknown. Some have a family history of the condition. Researchers have identified gene mutations associated with torticollis and it has also been linked to head, neck, or shoulder injuries.
The precise cause remains unclear. Normally the brain produces chemical messages that create normal, controlled muscle movements, and one of these messengers is acetylcholine. It is thought that in cervical dystonia too much acetylcholine is produced, causing excessive muscle contraction and overactivity. Some patients with cervical dystonia have a history of past head or neck injury, but we do not have conclusive evidence that this is causally related to dystonia; this requires further study. As with many diseases, it is likely that a combination of genetic and environmental factors contributes to its development.
Risk factors
- Age: although the disorder can occur at any age, it most commonly appears after age 30.
- Sex: it is more likely to develop in women than in men.
- Family history: if a close relative has had cervical dystonia or another form of dystonia, your risk is higher.
In general, it appears most often in people over 40 and is much more common in women than in men. Symptoms can range from mild to severe and are often accompanied by pain and/or tremor. Symptoms may remain stable or progressively worsen over time, sometimes getting worse for a few years and then stabilizing. About 20% of patients may experience brief symptom-free periods, but symptoms usually recur. The condition affects patients differently, and at first diagnosis it is not possible to predict its long-term impact on an individual.
Complications
In some cases the involuntary muscle contractions may spread to nearby body regions. Common sites include the face, jaw, arms, and trunk.
Diagnosis
Although a physical examination alone often confirms the diagnosis of cervical dystonia, your doctor may recommend blood tests or magnetic resonance imaging (MRI), an extremely reliable imaging diagnostic method, to rule out underlying conditions that might cause the symptoms.
Sometimes the symptoms of cervical dystonia are nonspecific and intermittent (for example, occasional involuntary head rotations) for months or even years, which makes diagnosis difficult. The final diagnosis made by your general practitioner or neurologist is usually partly or wholly based on the following:
The following may be among the symptoms:
- problems with the neck/shoulder, pain +/- tremor
- abnormal movements of the head and/or neck
- difficulty performing usual daily activities.
Findings on medical examination may include:
- noticeable enlargement of some or all affected muscles, often with some degree of reduced movement
- abnormal neck/shoulder positions +/- tremor.
There are no specific tests to confirm the diagnosis; laboratory and imaging studies are usually normal and therefore do not help establish the diagnosis of cervical dystonia.
Treatment
The condition is not curable. Some people experience spontaneous remission without treatment, but relapse is more common. Therapy focuses on relieving symptoms.
Although there is no known cure, symptoms can be treated with medications, physiotherapy, and/or injections of botulinum toxin.
Medications
Botulinum toxin, a muscle-paralyzing agent often used cosmetically to smooth facial wrinkles, can be injected directly into the neck muscles affected by cervical dystonia.
Botulinum toxins are proteins produced by the bacterium Clostridium botulinum. Injected in very small doses into overactive muscles, botulinum toxins help relax the muscles and, under careful medical supervision, are generally well tolerated and often provide effective treatment for cervical dystonia. Most people experience improvement with these injections, but the treatment usually needs to be repeated every three to four months.
Several types of botulinum toxin have been approved for treating cervical dystonia. They differ slightly in structure and mechanism of action, but all have the same effect on nerves and muscles. Your doctor will select the type best suited for you.
To improve results or to reduce the dose and frequency of botulinum toxin injections, your doctor may also prescribe oral muscle-relaxing medications. These include anticholinergics such as trihexyphenidyl, benzodiazepines such as diazepam, and GABA agonists such as baclofen.
Physiotherapy
"Sensory tricks"
Some patients report that certain postures or "sensory tricks" improve their symptoms. For example, head posture can be improved by touching the face, neck, or head with the hand or an object such as a pencil. These tricks work for some people but not for others, and they often lose effectiveness as the disease progresses.
Heat therapy, massage and exercises
Regular physiotherapy, massage, and local heat therapy can help relax the neck and shoulder muscles. Exercises that improve strength and flexibility of the neck region may also be beneficial. Because signs and symptoms of cervical dystonia tend to worsen with stress, learning stress-management techniques is important.
Ultrasound therapy applied to the affected muscles (for example with the M-Sonic 950 device) warms the muscles. This helps treat contracture (stiffness), pain and muscle spasms, and reduces inflammation. It also helps increase range of motion.
A study reported favorable effects of microcurrent treatment. Microcurrent therapy delivers extremely low-intensity electrical signals to the muscles. It is completely painless. Microcurrent therapy increases ATP and protein synthesis, enhances blood flow, reduces muscle spasms and inflammation, and thereby reduces pain.
This is also an electrical treatment that, when delivered at certain frequencies and pulse durations, increases circulation in the treated area, warms and relaxes the muscle. Stiffness decreases and postural problems may improve.
Combining physiotherapeutic methods (for example exercises, massage, ultrasound, microcurrent and muscle stimulation applied alongside each other) can produce remarkable results.
Supportive care and counseling can also be helpful for patients with cervical dystonia who often experience reduced self-esteem, depression, and social isolation.
In about 5-10% of cases patients do not respond to stretching and, as a last resort, surgical release of the muscle may be necessary.
Surgeries and other procedures
These are only considered if the patient does not respond to other treatments. They are not suitable for everyone and are generally a last-line option.
If less invasive treatments fail, your doctor may recommend surgery. Procedures may include:
- Deep brain stimulation: a thin wire is introduced into the brain through a small hole in the skull. The tip of the lead is placed in the part of the brain that controls movement. Electrical impulses are sent through the lead to disrupt the nerve signals that cause the head to twist.
- Cutting the nerves: another option is surgically cutting the nerves that transmit contraction signals to the affected muscles.
Overall, torticollis affects patients differently and its severity varies. Therefore, at the time of diagnosis it is not possible to predict exactly how the condition will progress for you. Only with time will it become clearer how it will affect you personally.
You should be aware that some everyday routine activities, such as driving or writing, may become increasingly difficult. Again, this depends on how the condition progresses and how well you respond to treatments.
The earlier treatment begins, the better. The mentioned physiotherapy methods can be done at home and help relax muscles and relieve symptoms.
I would like to emphasize again the importance of close cooperation with the specialists treating you to ensure you receive appropriate support in coping with the daily challenges of the condition.
More information is available on the European Dystonia Federation website (www.dystonia-europe.org).
