However, at this time there is no gene test that is recommended for clinical purposes in people with cervical dystonia. Cervical dystonia is associated with changes (mutations) in several genes ( GNAL, THAP1, CIZ1, ANO3 genes) and several possible environmental factors. In most cases, isolated cervical dystonia is idiopathic although a genetic susceptibility may be present as evidenced by a positive family history in approximately 10-25% of cases. However, in some cases, cervical dystonia can arise from another underlying cause and be considered secondary (occurring as consequence of another disorder or condition). Most isolated cervical dystonia had no identifiable underlying causes. Pain can potentially become severe and disabling.Ĭervical dystonia is classified as an isolated dystonia if there are no other associated abnormal findings, such as spasticity, Parkinsonism or ataxia. Pain related directly to cervical dystonia typically is on the same side as the head turn and is felt as muscular pain in the area of the overactive muscles. There can be secondary problems arising from cervical dystonia that include cervical spine arthritis, compression of nerve roots, and sometimes narrowing of the spinal cord in the neck (cervical stenosis). It is likely that less than 1 percent of affected individuals have permanent remissions. This remission is often temporary, lasting days to years, with recurrence of symptoms. A small percentage of individuals experience a spontaneous recovery (remission) after symptom onset. Symptoms may improve with the performance of sensory tricks, such as touching the cheek or the back of the head. The dystonia can be activated by certain postures or positions. Symptoms may temporarily worsen with stress or excitement. Studies of the natural history of CD are needed to better understand the natural history of this disorder. Symptoms of cervical dystonia vary over the course of the disorder. In some people with isolated CD, there may also be a postural tremor of the hands.
Often cervical dystonia is complex and combines several angles of head movement. There can also be shifting of the head on the shoulders in a forward (anterior sagittal shift) or backward (posterior sagittal shift) direction. Other abnormal postures associated with cervical dystonia including anterocollis, in which the head tips forward retrocollis, in which the head is tilted backward or laterocollis, in which the head tilts toward one side. The most common abnormal posture associated with cervical dystonia is the twisting of the chin toward a shoulder so that the head rotates sideways (torticollis). The head posture in cervical dystonia can vary. The symptoms of cervical dystonia may begin slowly and can involve any of the muscles of the neck. If cervical dystonia begins in infancy or early childhood, secondary causes should be investigated. The cause of cervical dystonia is unknown, although a genetic susceptibility is thought to underlie some cases. Cervical dystonia typically begins in middle age, and rarely begins in adolescence and young adulthood. It can affect quality of life and activities of daily living including employment. The severity of cervical dystonia can vary, but the disorder can cause significant pain and discomfort as well as difficulty due to the abnormal postures. In some cases, these abnormal contractions may be sustained or continuous in others, they may be present as spasms that can resemble tremor. Cervical dystonia is characterized by involuntary muscle contractions in the neck that cause abnormal movements and postures of the neck and head. It is the most common form of focal dystonia in an office setting. Stay Informed With NORD’s Email NewsletterĬervical dystonia, also known as spasmodic torticollis, is a rare neurological disorder that originates in the brain.Find a Rare Disease Patient Organization.Ensure Affordability of Prescription Drugs Under the Inflation Reduction Act.Rare Disease Cures Accelerator (RDCA-DAP).
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