Cervical dystonia

Alternate names

Spasmodic torticollis; Wry neck; Loxia; Cock-robin deformity; Twisted neck; Grisel syndrome

Definition

Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).

Types

Cervical dystonia may be classified as "primary" or "secondary."

Cause

• Primary dystonia refers to dystonia with no clear identifiable cause and is referred to as idiopathic.
• In primary dystonia, there is no known structural abnormality in the central nervous system, and no underlying disease present.
• Primary cervical dystonia is associated with a hereditary component in approximately 12% of cases, and it may possibly be linked to previous neck injury.
• Secondary dystonia occurs as a consequence or symptom of an underlying abnormality or disease (e.g. Parkinson disease) and has a clear cause which can be inherited or acquired.
• It may be linked to the use of certain medications (e.g. neuroleptics), excessive toxin ingestion (e.g. in carbon monoxide poisoning), or structural lesions due to trauma (primarily of the basal ganglia).
• Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3.

Onset

Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years.

Signs and symptoms

Symptoms of torticollis include:

• Limited movement of the head
• Headache
• Head tremor
• Neck pain
• Shoulder that is higher than the other
• Stiffness of the neck muscles
• Swelling of the neck muscles (possibly present at birth)

Diagnosis

The health care provider will perform a physical exam.

The exam may show:

• The head is rotated, tilted, or leaning forward or backward. In severe cases, the entire head is pulled and turned to one side.
• Shortened or larger neck muscles.

Tests that may be done include:

• X-ray of the neck
• CT scan of the head and neck
• Electromyogram (EMG) to see which muscles are most affected
• MRI of the head and neck
• Blood tests to look for medical conditions that are linked to torticollis

Treatment

Treating torticollis that is present at birth involves stretching the shortened neck muscle.

• Passive stretching and positioning are used in infants and small children.
• In passive stretching, a device such as strap, a person, or something else is used to hold the body part in a certain position.
• These treatments are often successful, especially if they are started within 3 months of birth.
• Surgery to correct the neck muscle may be done in the preschool years, if other treatment methods fail.

Torticollis that is caused by damage to the nervous system, spine, or muscles is treated by finding the cause of the disorder and treating it. Depending on the cause, treatment may include:

• Physical therapy (applying heat, traction to the neck, and massage to help relieve head and neck pain).
• Stretching exercises and neck braces to help with muscle spasms.
• Taking medicines such as baclofen to reduce neck muscle contractions.
• Injecting botulinum.
• Trigger point injections to relieve pain at a particular point.
• Surgery of the spine might be needed when the torticollis is due to dislocated vertebrae. In some cases, surgery involves destroying some of the nerves in the neck muscles, or using brain stimulation.

Prognosis

The condition may be easier to treat in infants and children. If torticollis becomes chronic, numbness and tingling may develop due to pressure on the nerve roots in the neck.

NIH genetic and rare disease info

• NIH info on Cervical dystonia

Cervical dystonia is a rare disease.

Cervical dystonia Resources
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