Cervical Dystonia (Spasmodic Torticollis)

What cervical dystonia is

Dystonia is a movement disorder in which muscles contract involuntarily because the brain's movement control circuits, especially the basal ganglia, cerebellum and their connections, send abnormal signals. In cervical dystonia, only the neck muscles are affected (focal dystonia), though it can spread to nearby areas such as the shoulders, face or arm.

Symptoms

Head postures

Many people have a combination, often with one shoulder raised.

Other symptoms

• head tremor or jerky movements, sometimes a "no-no" shake
• neck and shoulder pain, present in most people and often the most disabling symptom
• headaches
• symptoms worse with stress, fatigue, walking or concentrating, and better when lying down or asleep
• a sensory trick (geste antagoniste): lightly touching the chin, cheek or back of the head temporarily reduces the pulling
• embarrassment, social withdrawal, anxiety and depression

Symptoms usually start gradually and worsen over the first few years, then stabilize. About 10 to 20 percent of people have a spontaneous remission, often temporary.

Causes

• Idiopathic (no known cause): most cases.
• Genetic: some cases run in families; several genes have been identified.
• Medicines: antipsychotics, metoclopramide and some anti-nausea drugs can cause sudden (acute) or late-onset (tardive) dystonia.
• Injury: to the head, neck or shoulder, occasionally preceding symptoms.
• Other neurological diseases: Parkinson's disease, Wilson disease (in young people), stroke or other brain lesions.

Cervical dystonia vs other causes of a twisted neck

Diagnosis

Diagnosis is clinical, made by a neurologist, ideally a movement disorder specialist, who watches the head posture, movements and sensory tricks. Tests are used to rule out other causes:

• MRI of the brain or neck if there are atypical features
• blood tests, including copper and ceruloplasmin for Wilson disease in people under 50
• genetic testing in early-onset or familial cases
• EMG to identify the most active muscles before injections

Treatment

Botulinum toxin injections

Botulinum toxin (Botox and similar products) is the first-line treatment. Injected into the overactive neck muscles, it blocks the nerve signals that cause contraction. Most people notice improvement in posture and pain within 1 to 2 weeks, lasting about 3 months, so injections are repeated roughly every 12 weeks. EMG or ultrasound guidance can improve accuracy. Side effects can include temporary difficulty swallowing, neck weakness and a dry mouth.

Physical therapy

Stretching, strengthening opposing muscles, posture training and sensory trick techniques complement injections and help with pain.

Oral medicines

Used when injections alone are not enough:

• anticholinergics such as trihexyphenidyl (more often tolerated by younger people)
• muscle relaxants such as baclofen
• benzodiazepines such as clonazepam
• pain relief for neck pain

Deep brain stimulation (DBS)

For severe cases that do not respond to injections, electrodes placed in the globus pallidus can reduce symptoms over months. Selective nerve surgery (peripheral denervation) is an older option.

Living with cervical dystonia

• use your sensory trick, supportive pillows and headrests
• manage stress, which worsens symptoms
• connect with dystonia support groups
• seek help for anxiety or depression, which are common

Outlook

Cervical dystonia is usually a lifelong condition, but it does not shorten life expectancy. Symptoms often worsen over the first 5 years and then stabilize. With regular botulinum toxin injections and therapy, most people control symptoms well and continue working and their usual activities.

Frequently asked questions

What are the first symptoms of cervical dystonia?

Early symptoms often include a feeling of neck stiffness or pulling, a head that turns or tilts slightly on its own, head tremor and neck pain. They are usually worse when stressed, tired or walking and better when lying down.

What causes cervical dystonia?

In most people the cause is unknown. It results from abnormal signaling in brain circuits that control movement. Some cases are genetic, caused by medicines such as antipsychotics, or follow an injury or another neurological condition.

How effective is Botox for cervical dystonia?

Botulinum toxin injections help most people with cervical dystonia, improving head posture and neck pain. Effects begin within about 1 to 2 weeks and last about 3 months, so injections are repeated regularly. Doses and muscles are adjusted over time for the best result.

What is a sensory trick in dystonia?

A sensory trick, or geste antagoniste, is a light touch, often to the chin, cheek or back of the head, that temporarily reduces the abnormal pulling. Many people discover it on their own. It is a characteristic feature that helps doctors diagnose dystonia.

Can cervical dystonia go away?

Spontaneous remission happens in a minority of people, usually in the first few years, but symptoms often return. For most, cervical dystonia is long-term but manageable with injections, therapy and, in severe cases, deep brain stimulation.