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Torticollis, Spasmodic

Definition :
Spasmodic torticollis, also called torticollis or cervical dystonia, is a painful condition in which your neck muscles contract involuntarily, causing your head to twist or turn to one side. Sometimes the contractions are sustained and other times the neck muscles spasm, causing a repetitive, jerky movement of your head.

Spasmodic torticollis is a form of dystonia. There are various types of dystonia, identified by where they occur in your body and what causes them. All involve involuntary muscle contractions that cause repetitive, often twisting movements, which produce sustained abnormal postures. Dystonias involving only one limb or body part (trunk, neck, face) are referred to as "focal." Spasmodic torticollis is the most common type of focal dystonia.

Spasmodic torticollis can occur at any time from birth to adulthood, but most often it occurs in young adults. It's more common in women. Spasmodic torticollis usually begins gradually and then reaches a point where it doesn't get any worse.

For a few people there can be a spontaneous remission, but often the signs and symptoms relapse. A variety of treatments are available, and your symptoms may ease with one or a combination of these treatments.

Causes :
Spasmodic torticollis results from abnormal, excessive brain input to muscles. Nerve cells (neurons) within the brain act together in a variety of networks to affect different functions, including voluntary movement. Though the exact mechanism producing spasmodic torticollis and other dystonias isn't known, the most likely cause stems from abnormal electrical activity within neurons in the cerebral cortex or in the basal ganglia — a collection of nerve cells deep in the brain — or in both, which make up a key network for voluntary movement.

Electrical activity between neurons is modulated by various chemicals known as neurotransmitters. Some of these neurotransmitters are :

  • GABA. Gamma-aminobutyric acid (GABA) decreases the electrical activities of nerve cells and helps the brain maintain muscle control.
  • Dopamine. Like GABA, this neurotransmitter helps the brain maintain muscle control by preventing neurons from firing (inhibitory neurotransmitter).
  • Acetylcholine. This neurotransmitter works in a way that is the opposite of GABA and dopamine by helping initiate movement. Acetylcholine, released at nerve endings, causes muscles to contract.
  • Norepinephrine, serotonin. These neurotransmitters work by causing blood vessels to narrow or constrict. Norepinephrine works in the involuntary (sympathetic) nervous system and is released during times of stress. Serotonin regulates the delivery of messages between nerve cells. Both of these neurotransmitters help the brain regulate acetylcholine.

Primary vs. secondary torticollis
Your doctor may classify your type of spasmodic torticollis as primary or secondary based on its cause.

  • Primary spasmodic torticollis. This type of torticollis is described as not being secondary to any identifiable, acquired disorder affecting the brain or spinal cord — such as a stroke, infection, tumor or trauma. Some people with primary spasmodic torticollis appear to have inherited a gene linked to dystonia (DYT1). However, not every person carrying the DYT1 gene will develop dystonia. Therefore, it's likely that other genes or environmental factors may play a role in the development of dystonia.
  • Secondary spasmodic torticollis. Torticollis that occurs as a consequence of, or secondary to, a specific injury to the brain or spinal cord, such as from stroke, tumor, severe trauma, toxins or birth injury, is called secondary spasmodic torticollis. There may be a period of months between the injury and the onset of the dystonia. Because the development of torticollis (particularly after trauma) may vary among people with identical injuries, experts believe that a genetic predisposition may also play a role.

    Some cases of secondary dystonia, including spasmodic torticollis, are caused by a malfunction in the production of dopamine. Dystonia may also be a sign of other neurological diseases, such as Parkinson's disease or Wilson's disease.

Risk Factor :
There's likely a genetic link for developing spasmodic torticollis. About 5 percent of people with spasmodic torticollis have at least one relative with the same disorder, and about half have a family history of tremors in the head or hand. An awareness of your family's neurological disorders may help you understand your risk of developing dystonia and passing it on to future generations.

When to seek medical advice :
Because early signs and symptoms of spasmodic torticollis are often mild, intermittent and linked to a specific activity or stress, some people have reported that, at first, they thought they were just imagining a problem. If you or someone you know is experiencing involuntary muscle contractions, talk to your doctor.

Symptoms :
A major sign of spasmodic torticollis is spasms in your neck muscles that you can't control. These spasms may be quite painful and even produce compression of nerve roots in the neck.

Torticollis literally means "twisted neck." However, cervical dystonia may produce abnormal neck postures in different directions. Frequently, there is a combination of these abnormal postures in any given person with torticollis.

  • Anterocollis, in which your head tilts forward
  • Retrocollis, in which your head tilts backward
  • Laterocollis, in which your head tilts to one side

Additional signs and symptoms include :

  • Enlargement of neck muscles (possibly present at birth)
  • Uneven shape of an infant's head from sleeping on the affected side
  • Elevation of the shoulder on the affected side
  • Stiffness in the neck muscles
  • Limited range of motion
  • Headache
  • Neck pain
  • Tremor

In young children, spasmodic torticollis can occur in a couple of forms. Both involve the large neck muscle that runs from behind the ear to the joint between the collarbones (sternocleidomastoid muscle).

  • Congenital muscular torticollis. Signs and symptoms of this form of torticollis usually develop in infants by the time they are 2 to 4 weeks old. Your child will prefer to hold his or her head to one side, almost always tilted toward the muscle in spasm. Often there will be a lump or mass in the affected neck muscle, which may be the first sign of congenital muscular torticollis in children between 1 and 8 weeks old. The mass usually goes away by the time your child is about 6 months old. He or she may also have additional muscular or skeletal problems, such as hip dysplasia, irregular facial features and abnormalities in the bones (vertebrae) of the neck (cervical spine).
  • Acquired torticollis. This kind of spasmodic torticollis is similar to congenital torticollis, but it's rare. Children are usually older when it first occurs, and the symptoms appear more rapidly. Your child may indicate pain and have a decreased range of motion in the head and neck. Unlike congenital torticollis, the head is almost always tilted away from the muscle in spasm. This difference is often used to distinguish between the two types of torticollis in children.
Diagnosis :
Diagnosis of torticollis will include a thorough assessment of your signs and symptoms, usually by a specialist in the brain and nervous system (neurologist). Your doctor will also take a complete medical history to account for dystonia in your family, previous head injury or stroke, exposure to toxins or drugs, or evidence of other potential secondary causes. Your doctor may use the following procedures in pursuing a Diagnosis:
  • Blood or urine tests. These may reveal the presence of toxins.
  • Magnetic resonance imaging (MRI). This type of imaging test may be used to identify and visualize tumors or evidence of stroke.
  • Genetic testing. In some cases, doctors suggest genetic testing for children, adolescents and some adults to screen for mutation of the DYT1 gene. If you have dystonia and you test positive for the mutation, or if there's no evidence of a secondary cause, your doctor will diagnose the disorder as primary spasmodic torticollis.
  • Electromyography (EMG). This test measures the electrical activity of muscles. EMG helps evaluate and diagnose muscle and nerve disorders and can help confirm whether you have spasmodic torticollis or another condition.

Diagnosis in children
The first step in diagnosing torticollis in children is to determine whether they need immediate intervention. If an injury was involved in causing acquired torticollis, steps may need to be taken quickly to avoid permanent damage.

The goal of your child's examination is to verify the diagnosis of torticollis and to identify possible treatable causes in the case of secondary torticollis. Your doctor may order a variety of imaging tests, such as X-rays, computerized tomography (CT) scans or magnetic resonance imaging (MRI), to rule out complications and identify other possible causes of your child's problems.

If congenital torticollis is suspected, it's possible for your child to be diagnosed as early as 2 to 4 weeks old. Your doctor will look for evidence of restricted range of motion in your child's head and neck. Your doctor will also try to identify the characteristic mass or "pseudotumor" in your child's neck muscle. If a mass is found, your doctor may order X-rays of your child's cervical spine to make sure the mass isn't being caused by some other problem.

Complications :
The nerve compression that occurs in spasmodic torticollis has the potential to cause permanent nerve damage. It may also cause numbness and tingling in your neck, arms, hands and fingers. At first your movements associated with this disorder may be mild and appear only occasionally. But after a while, dystonic motions may lead to permanent physical deformities because your tendons may shorten.

The skull of a child with congenital muscular torticollis can become deformed as a result of the head always being held to one side. Some children may also develop uneven facial features.

Treatment:
Various treatments are available for spasmodic torticollis. The course of action you and your doctor choose for yourself or your child will depend upon the type and cause of the condition. The goal for treatment of spasmodic torticollis is to ease spasms and pain.

Treatment options include oral medications, botulinum toxin injections and surgery. These therapies can be used separately or in combination. In addition, your treatment plan can be supplemented by incorporating strategies for stress management, physical therapy, stretching and splinting.

Medications
Doctors use a variety of medications to treat spasmodic torticollis. Their effectiveness varies among people and even in the same person over time, and they can cause side effects.

The best course of action is for you and your doctor to try various medications until you find a single drug or drug combination that works best for you. Drugs used to treat spasmodic torticollis include :

  • Drugs that reduce levels of the neurotransmitter acetylcholine. Benztropine (Cogentin) and procyclidine (Kemadrin) have worked for some people, but they can have a sedating effect, which limits their usefulness. Other side effects include blurred vision; constipation; dry mouth, nose or throat; increased light sensitivity; nausea; and vomiting.
  • Drugs that regulate the neurotransmitter GABA. GABA naturally decreases the activity of nerve cells. But in people with certain dystonias, it's thought that this neurotransmitter may not be released properly. These drugs, which include certain muscle relaxants, help bring this chemical activity back into balance. They are sometimes used in combination with drugs that act on acetylcholine, and sometimes are used alone. They include diazepam (Valium), lorazepam (Ativan), clonazepam (Klonopin) and baclofen (Lioresal Intrathecal). Side effects include drowsiness, dizziness, fatigue, weakness, dry mouth, diarrhea, upset stomach and changes in appetite.
  • Drugs that either increase or decrease your dopamine levels. Dopamine is a neurotransmitter that helps your brain fine-tune muscle movement. People have benefited from drugs that both increase and decrease dopamine levels. Drugs that increase dopamine levels are levodopa (Laradopa), the combination drug levodopa-carbidopa (Sinemet) and bromocriptine (Parlodel). Reserpine is a drug that is used to decrease dopamine levels. Side effects may limit the usefulness of drugs that change your dopamine level and include dizziness, upset stomach, constipation, diarrhea, vomiting, headache, dry mouth and decreased sexual ability. Additionally, levodopa may cause abnormal thinking, including a false sense of well-being and hallucinations, numbness, unusual and uncontrolled movements of the body, fatigue and weakness.
  • Anticonvulsants. These medications — such as carbamazepine (Carbatrol, Epitol), which is usually used to control epilepsy — have occasionally been helpful in treating dystonias. Side effects of these medications may include abnormal behavior, such as agitation, irritation, depression and suicidal thoughts. In addition, anticonvulsants may cause you to lose muscle control, have blurred or double vision, or become drowsy, dizzy, lightheaded or weak. Your skin may also become more sensitive to sunlight.

Botulinum toxin injections
What is typically known as an anti-wrinkle treatment is also effective for spasmodic torticollis. You receive this treatment in very small doses by injection directly into the affected neck muscles. The toxin stops muscle spasms by blocking acetylcholine, using the smallest dose possible to avoid immunity to the treatment. Usually this treatment is effective in relieving symptoms for about three months.

Surgery
Surgery is a treatment of last resort to consider when other treatments have failed or have not had satisfactory results. Surgical options include :

  • Selective denervation surgery. The goal is to interrupt the nerve pathways responsible for the abnormal neck movements. This is done by severing or removing nerves that control the affected muscle. Sometimes the muscle itself is severed. This surgery carries serious risks. The muscles and nerves in your neck are very complicated and surgery may result in disfigurement, can be unpredictable and is irreversible. Choose a surgeon who is experienced in these procedures.
  • Deep brain stimulation. A technique called deep brain stimulation involves implanting an electrode in your brain connected to a stimulating device in your chest that generates an electrical pulse. The electrodes are thin flexible wires that go through your skull deep into different parts of your brain. Activation of the electrode temporarily disables nerve activities by damaging small areas of your brain with the intent of "rebalancing" your movement and posture control.

    The device is to your brain what a pacemaker is to your heart. It's activated by an external battery. The wires and battery are all placed under your skin and cannot be seen. In order to modulate the effect of the treatment, your doctor can adjust the frequency and intensity of electrical pulses.

    This type of surgery is widely used for Parkinson's disease and its use for treating spasmodic torticollis and other dystonias has showed promise.

Treatment in children
Many of the treatments for children are similar to those for adults, but because they are children, there may be special considerations.

  • Treatment of acquired (secondary) torticollis. Treatment of this type of torticollis depends on the cause. Nonsteroidal anti-inflammatory drugs (NSAIDs) and a neck brace are appropriate treatment for torticollis caused by an injury. Antibiotics for torticollis caused by infection should bring symptom relief.
  • Treatment of congenital torticollis. If your child is diagnosed with congenital muscular torticollis, hold your child so that he or she must rotate his or her head toward the shoulder of the affected side during feeding. When you put your baby in the crib or play together, do so in such a way that your child is forced to turn his or her head in the opposite direction of the affected muscle. This encourages gentle stretching of the shortened neck muscles.

Your doctor can suggest routine activities that you can involve your child in to train and stretch the affected muscles and ideally minimize the long-term effects of this disorder. In some cases, your child may need surgery to address symptoms that cannot be addressed in other ways and to provide a more normal physical future for your child.

Prevention:
Although there's no known way to prevent this disorder, early treatment may prevent the condition from becoming worse.

 
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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