Information on the following diseases can be found in the Related Disorders section of this report:

• Dystonia

The onset of Spasmodic Torticollis usually occurs in the fourth or fifth decade of life. The first symptoms may appear gradually with the head tending to rotate to one side when a person tries to keep it straight or during a stressful situation. The symptoms may progress slowly, but they often reach a plateau after about two to five years. Five to 10 percent of patients with Spasmodic Torticollis experience a spontaneous recovery, usually within five years after symptom onset. This recovery seems to be more common in those individuals whose symptoms began before 40 years of age and in those with a milder form of the disease. The disorder may also recur after apparent remission.

In some cases, patients experience pain that is generally focused on one side of the neck and in one place. However, this varies from person to person. Pain may occur on the side of the neck, or in the back or shoulders. One shoulder may be higher than the other, and the arm or hand on the affected side may occasionally have tremors or cramping. Spasmodic Torticollis is often diminished or absent in the morning for a short time (10 minutes to four hours) upon awakening. Lying on one’s back may provide relief for many affected individuals.

Spasmodic Torticollis is a form of Dystonia, a group of neurological movement disorders characterized by involuntary muscle contractions that force certain part(s) of the body into abnormal movements and positions (postures). Muscle spasms may be painful and lead to disability and handicap.

Spasmodic Torticollis (cervical dystonia) is believed to be caused by abnormal functioning of structures deep within the brain known as basal ganglia, which are involved in the control of movement. The basal ganglia assist in initiating and regulating movement. What goes wrong is still unknown, but it is possible that an imbalance of dopamine, a neurotransmitter in the basal ganglia, may underlie several forms of dystonia. More research is needed to better understand the brain mechanisms involved with dystonia.

The possible role of head or neck injury in triggering some causes of dystonia among those who have a genetic susceptibility also is being studied. However, such a link, if it exists, is not clearly understood, and the interval from the time of trauma to the onset of dystonia may be years.

Some cases of inherited Spasmodic Torticollis have been reported, usually in conjunction with early-onset generalized dystonia, which is associated with the DYT1 gene.
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Spasmodic Torticollis is the third most common movement disorder, after Parkinson’s disease and tremor, typically first appearing between the ages of 30 and 50. Spasmodic Torticollis affects people of all ethnic backgrounds. There is no significant difference in its prevalence among males and females. It has been estimated that approximately 83,000 patients in the United States have this disorder.
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Dystonia is a group of complex movement disorders that varies in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force a certain part(s) of the body into abnormal, sometimes painful, movements and positions (postures). Dystonia is not a single disease, but rather a diverse group of conditions with a variety of symptoms. There are many different causes for dystonia. Genetic as well as non-genetic factors contribute to all forms of dystonia. The most characteristic finding associated with Dystonia is twisting, repetitive, writhing movements that affect a certain part(s) of the body such as the neck, or an arm or leg, or the face. (For more information on this disorder, choose "Dystonia" as your search term in the Rare Disease Database.)

Diagnosis
The diagnosis of Spasmodic Torticollis may be suspected based upon a thorough clinical evaluation and detailed patient history. At this time, there is no test to confirm diagnosis of Spasmodic Torticollis. This condition should not be confused with other conditions that cause a twisted neck, such as local orthopedic, congenital problems of the neck or ophthalmologic conditions in which the head is tilted to compensate for double vision. It is sometimes misdiagnosed as stiff neck or arthritis.

Treatment
Not every treatment for Spasmodic Torticollis is successful for all affected individuals. Most therapies are symptomatic and are intended to relieve spasms, pain and disturbed postures or functions. Identifying the treatment regimen that is most effective in individual cases may require patience and perseverance on the part of the patient and physician.

There are essentially three treatment options: oral medications, botulinum toxin injections, and surgery. These treatments may be used alone or in combination. In addition, physical and speech therapy may provide a helpful complement to medical treatment.

Many different drugs have been studied for the treatment of Spasmodic Torticollis, but none has been shown to be effective in all cases. The drugs that are sometimes helpful include various anticonvulsants, muscle relaxants and antidepressants such as trihexyphenidyl (Artane), benztropine (Cogentin), levodopa (Sinemet or Madopar), bromocriptine (Parlodel), amantadine (Symmetrel) and diazepam (Valium).

Botulinum toxin injections are the primary and most effective form of treatment for cervical dystonia. Botulinum toxin (BTX) is injected directly into the muscle(s) to relax the muscle(s) and reduce or eliminate spasms. The effects of the injections may become apparent within about five to 10 days. These injections usually need to be repeated after three to four months when symptoms return.

Injections are made directly into the affected neck muscles. It is very important for the injections to be delivered to the appropriate muscles, and it may be necessary to inject different muscles at different times.

There are two versions of Botulinum toxin now available: They are botulinum toxin type A (Botox) from Allergan Inc. and botulinum toxin type B (Myobloc), formerly known as Neurobloc, from Elan Pharmaceuticals.

Surgery is not usually undertaken; however, in severe cases, when other approaches such as medication and botulinum toxic injections are not effective, surgery may sometimes be beneficial. Also, electrical nerve stimulation through the skin by TENS (transcutaneous electrical nerve stimulation) may relieve pain. Pain control may also sometimes be achieved by means of biofeedback, nerve blocks or relaxation techniques.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Patients are being recruited (2007) for a study of cervical dystonia being conducted at cneters across the country. Individuals age 18 to 75 with a clinical diagnosis of cervical dystonia who have previously been treated for the condition, or those interested in learning whether they might have cervical dystonia who have not yet received treatment, may be eligible. The study is evaluating the safety and effectiveness of an investigational compound for the treatment of cervical dystonia. For information, visit www.dystoniastudies.com or call (800) 984-0408 (tollfree).

The National Institute of Neurological Disorder and Stoke (NINDS) at the National Institutes of Health is sponsoring a study being conducted at the NIH Clinical Center in Bethesda, MD, to examine the effectiveness of botulinum toxin as a treatment for several movement disorders. The goals are to refine the technique of treatment to provide the best results, to improve the understanding of how botulinum toxin works on movement disorders, and to identify other conditions that may be treatable with botulinum toxin. For information, visit www.clinicaltrials.gov or contact the NIH Patient Recruitment Office listed above.

There are seven distinct types (serotypes) of botulinum toxin, each identified by a letter of the alphabet "A" through "G." Minute amounts of toxin are injected directly into the affected muscle(s), causing temporary muscular paralysis, and thereby weakening spasms, abnormal contractions, and head turning associated with sasmodic torticollis. Botulinum toxin type A and botulinum toxin type B have been approved for the treatment of spasmodic torticollis (see the Standard Therapies section).

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