Cervical Dystonia is also known as spasmodic torticollis. It is a rare neurological disorder that originates in the brain and is the most common form of focal dystonia. It is characterized by individual muscle contractions in the neck that cause abnormal movements and postures of the neck and head. These abnormal contractions can be sustained or continuous in some cases while in others they present as tremors. The disorder causes significant pain and discomfort as well as difficulty due to abnormal posture affecting the quality of life and activities of daily living.
Cause of cervical dystonia is unknown and typically begins in the middle age. It affects women twice as often as men and is the most common form of dystonia in the office setting. It can affect individuals of any age but is most commonly seen in individuals between 40 and 60 years of age. Exact prevalence is unknown but is estimated to be about 60,000 people in the US.
Symptoms typically begin slowly and can involve any muscle in the neck. The most common abnormal posture is twisting of the chin towards the shoulder causing the head to rotate sideways (torticollis). Other postures seen are antercollis (head tilts forward), retrocollis (head tilted backwards), and latercollis (head tilts towards one side).
Some people with cervical dystonia may also present with postural tremors of the hands although the symptoms may vary over the course of the disorder. Symptoms can temporarily worsen with stress or excitement. Symptoms can improve with performance of sensory ticks such as touching of cheek or back of the head. A small percentage of patients experience spontaneous recovery though it is often temporary and lasts days to years with a recurrence of symptoms later. Less than 1% of affected individuals have permanent remission.
Cervical dystonia can lead to secondary complications such as cervical spine arthritis, compression of nerve roots, and narrowing of spinal cord in the cervical region. Pain associated with this condition can be severe and disabling.
This is an isolated dystonia, i.e., there are no other associated abnormal findings such as spasticity or ataxia. However, the dystonia can be secondary and arise from other underlying causes. In most cases the etiology is idiopathic but there can be a genetic susceptibility as evidenced y positive family history in approximately 10-25% cases. The secondary dystonia can develop due to use of certain drugs (anti-psychotics or certain nausea medicines), toxins, or due to degenerative brain disease.
Diagnosis is based on clinical examination and detailed patient history. There are no specific laboratory or imaging tests that can be used to confirm the diagnosis. Electromyography may be suggested if there are signs of nerve irritation.
There is no single treatment option and most therapies are intended to provide symptomatic relief. There are primarily three treatment options: botulinum toxin injections, oral medication, and in some cases surgery. As not every treatment is successful on all patients, finding the right stand alone or combination treatment is paramount.
Information about current clinical trials can be found at www.clinicaltrials.gov. Supporting organizations include Cervical Dystonia, Dystonia Europe, Dystonia Medical Research Foundation, Dystonia Society, Genetic and Rare Disease (GARD) Information Center, National Spasmodic Torticollis Association, NIH/National Institute of Neurological Disorders and Stroke, and Spasmodic Torticollis ST/Dystonia.