Ariane Park, MD, MPH
Andrea G. Malone, DO
DESCRIPTION 
Torticollis is a term used to describe disorders characterized by abnormal postures of the head and neck. Cervical dystonia (CD) is the preferred term for the idiopathic movement disorder that causes involuntary contraction of the cervical muscles, resulting in clonic (spasmodic, tremor) head movements and/or tonic (sustained) head deviation. Head deviation can be described as follows: Torticollis, torsion or rotation of the head; anterocollis, flexion of the neck, head forward; retrocollis, extension of the neck, head backward; or laterocollis, tilt of the head to 1 side.
EPIDEMIOLOGY
Incidence
CD is the most common form of focal dystonia, onset most commonly occurs in early-to-mid life with a female predominance. Torticollis and laterocollis are the most common head deviations; retrocollis and anterocollis are more rare. Most patients have combinations of neck deviations depending on the cervical muscles involved. Tremor is common with the tonic head deviation. There may be other dystonias and tremor involving facial, buccal–lingual, mandibular, and other body parts. The clinical course of CD is variable; most patients report some progression of symptoms. Spontaneous remission is rare (10–20%). Torticollis is a disorder of middle and late life. Torticollis in childhood is more likely to be acquired and nondystonic. In infancy, congenital muscular torticollis is the most common cause of restricted range of motion of the head.
RISK FACTORS
Torticollis usually occurs spontaneously, and there are no specific risk factors for its development.
Pregnancy Considerations
Torticollis is not associated with pregnancy. In terms of treatment, botulinum toxin is not approved for use during pregnancy. Other medications should be avoided if possible during pregnancy.
Genetics
Genetic mechanisms may play a role.
ETIOLOGY
Torticollis may be dystonic (either idiopathic, cause unknown, or secondary, related to some other process) or nondystonic (due to a mechanical process). The pathologic localization and mechanism underlying idiopathic CD is not well understood. The basal ganglia and vestibular system are implicated. Torticollis has a broad differential diagnosis (see below).
COMMONLY ASSOCIATED CONDITIONS
Torticollis may be idiopathic or secondary to other conditions (listed below). Head tremor is commonly associated with torticollis and may confuse the examiner.
[Outline]
- Head deviation: Rotation, tilt, flexion, extension, or some combination
- Tremor: If present, may be essential type involving head (no direction), oscillatory, jerky, or spasmodic
- Cervical pain: Nonradicular, aching, or radicular
- Palpable spasm and hypertrophy of muscle may be present
- Head deviation can be controlled temporarily by counterpressure and sensory tricks, geste antagoniste: Touching chin, face, or back of head
- Exacerbation occurs during periods of fatigue and stress
DIAGNOSTIC TESTS AND INTERPRETATION
Lab
- With onset in patient <50 years old, obtain serum ceruloplasmin and liver function tests to exclude Wilson's disease.
- Review drug exposure (especially dopamine-blocking agents, i.e., neuroleptics, metoclopramide).
- Consider MRI of neck to exclude structural etiologies.
- Consider genetic testing if there is a strong family history of dystonia.
- Consider other laboratory studies (antinuclear antibody, ESR, rapid plasma reagin, CBC, electrolytes, renal, and liver function tests) if history or physical examination suggests the condition.
Imaging
There is no specific imaging abnormality demonstrable in idiopathic CD. However, appropriate imaging studies may be indicated to identify nondystonic forms of torticollis.
DIFFERENTIAL DIAGNOSIS
- Dystonic conditions
- Idiopathic:
- Primary focal dystonia (CD)
- Associated with more generalized dystonia
- Secondary:
- Associated with neurological degenerative illnesses, e.g., parkinsonism (multiple system atrophy, progressive supranuclear palsy, idiopathic Parkinson's disease), Huntington's disease, Wilson's disease
- Associated with metabolic disorders, e.g., amino acid disorders (such as homocystinuria), lipid storage disorders (such as metachromatic leukodystrophy), Lehigh's disease
- Associated with other causes, e.g., perinatal injury (cerebral palsy), infection (encephalitis, Jakob–Creutzfeldt disease, syphilis), head trauma/cervical trauma, multiple sclerosis, stroke
- Associated with toxins, e.g., manganese, carbon monoxide, methane
- Associated with drugs, e.g., levodopa, dopamine agonists, neuroleptics, dopamine-blocking agents
- Nondystonic head tilt
- Structural (mechanical):
- Cervical spine fracture
- Dislocation
- Disc herniation
- Cervical region abscess
- Congenital fibrous bands
- Neurological:
- Vestibulo-visual: Fourth nerve palsy, hemianopia
- Posterior fossa tumor
- Spinal cord tumor
- Arnold–Chiari malformation
- Focal seizures
- Cervical myopathy
- Myasthenia gravis
- Psychogenic
[Outline]
MEDICATION
- Chemodenervation, botulinum toxin treatment
- Botulinum injections are the treatment of choice for torticollis (CD), both idiopathic and secondary forms. Botulinum toxin injections block acetylcholine release, causing focal neuromuscular junction blockade. By selectively injecting various doses into affected muscles, the symptoms of CD and other dystonias often are dramatically relieved. Repeated injections often are necessary every few weeks or months, depending on the response.
- Contraindications: Neuromuscular disorders such as Lambert–Eaton syndrome and myasthenia gravis are relative contraindications to botulinum toxin use. It also should be avoided in myopathies and in motor neuron disorders.
- Precautions: Botulinum injections should be administered only by a physician expert in the diagnosis and treatment of dystonias and in the administration of this medication. Side effects are rare when used appropriately. Subcutaneous hematomas and pneumothorax have been reported. Temporary muscle weakness is a predictable response to this therapy. Occasionally, temporary dysphagia occurs with higher doses. Secondary resistance to botulinum toxin is becoming an issue in clinical practice.
- Alternative drugs
- Anticholinergic agents (trihexyphenidyl)
- Often require high doses with significant side effects
- Dry mouth, urine retention, psychosis
- Tricyclic antidepressants (amitriptyline)
- Often requires high doses with significant side effects
- Dry mouth, urine retention, weight gain
- Benzodiazepines (clonazepam, lorazepam)
- For tremor component of torticollis
ADDITIONAL TREATMENT
General Measures
Physical measures such as stretching, heat, and physical therapy may be considered. The role of such measures is limited in idiopathic torticollis.
COMPLEMENTARY AND ALTERNATIVE THERAPIES
- Symptomatic treatment
- Nonpharmacological therapies such as biofeedback, hypnosis, relaxation techniques, acupuncture, and other modalities have been used in torticollis but are generally unhelpful. Botulinum therapy has become the standard of care.
- Adjunctive treatment
- There may be occasionally a role for sensory feedback therapy or relaxation techniques in the relief of associative symptoms such as pain.
SURGERY/OTHER PROCEDURES
Rhizotomy, neurectomy, or myotomy has been advocated for patients who do not respond to chemodenervation and medical pharmacotherapy. Currently, the application of basal ganglia ablative surgery (i.e., thalamotomy) and deep brain stimulation is considered only for treatment of more generalized forms of dystonia.
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FOLLOW-UP RECOMMENDATIONS
Patient Monitoring
Patients undergoing botulinum toxin injections should be monitored for response to medication and evaluated at regular appointments, usually every 3 months, for repeated injections. No routine laboratory or imaging studies are required.
PATIENT EDUCATION
Patients should be made aware of the risk of muscle weakness, dysphagia, bruising, and rarely pneumothorax with botulinum injections. They should know that treatment is temporary and needs close follow-up. They should understand that torticollis is a treatable condition that usually does not cause major disability.
PROGNOSIS
Approximately 60–80% of patients benefit from botulinum toxin injections, usually with reduced but not completely abolished symptoms.
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