Torticollis (Cervical Dystonia)
Torticollis (cervical dystonia) is the most common focal dystonia, characterised by an abnormal head posture (turned, tilted, flexed or extended) caused by involuntary, sustained or intermittent contractions of the neck muscles. Botulinum toxin injections are the mainstay of treatment; in refractory cases, deep brain stimulation of the globus pallidus interna (GPi-DBS) may be used.
Última atualização: 2026-06-07
Definition
Cervical dystonia (spasmodic torticollis) is the most common focal dystonia, in which involuntary, sustained or intermittent contractions of the neck muscles bring the head into an abnormal position. It is generally more common in women, with a typical onset in adulthood to middle age. Its pathophysiology involves dysfunction of the basal ganglia and corticostriatal circuits, loss of inhibitory control and activation of unwanted motor programmes.
Types
It is divided into subtypes by head posture: torticollis (the head turns to one side) is the most common; laterocollis (the head tilts to the side); anterocollis (the head flexes forward); and the rarest, retrocollis (the head extends backward). Most patients show a combination of these patterns. The principal muscles involved are the sternocleidomastoid, splenius capitis, trapezius, levator scapulae and scalene muscles.
Causes and Risk Factors
The great majority of cases are primary (idiopathic) dystonia; some involve a genetic predisposition (autosomal dominant inheritance), but most are sporadic. Secondary causes include drugs (neuroleptic-induced tardive dystonia), neck trauma, basal ganglia lesions (infarction, haemorrhage), Wilson's disease and multiple sclerosis. Excluding secondary causes is important in young-onset cases.
Symptoms
The main features are an abnormal head posture and contraction of the neck muscles; the contraction may be sustained (tonic) or rhythmic (clonic, dystonic tremor). Chronic neck pain accompanies the condition in a large proportion of patients. In the early stage symptoms appear intermittently with stress and fatigue, while in advanced disease they may become continuous. The dystonia-specific sensory trick (geste antagoniste) is common: light touch to the chin, cheek or forehead temporarily corrects the head posture. Symptoms usually diminish during sleep and rest. The abnormal posture may cause social anxiety, loss of work and reduced quality of life.
Diagnosis
Diagnosis is clinical; history and physical examination are usually sufficient. Supporting findings are involuntary neck contractions, abnormal head posture, a positive sensory trick and reduction of symptoms at rest. To exclude secondary causes, cervical and brain MRI are performed; ceruloplasmin and urinary copper are checked in young patients for Wilson's disease. Electromyography (EMG) is not routine for diagnosis but helps identify target muscles for botulinum toxin injection. The differential diagnosis includes congenital muscular torticollis, psychogenic dystonia, cervical radiculopathy and posterior fossa lesions.
Medical (Conservative) Treatment
Botulinum toxin injection is the first-line and most effective treatment. It is delivered to the involved muscles (sternocleidomastoid, splenius, trapezius, levator scapulae) using anatomical or EMG guidance; by blocking acetylcholine release it reduces contractions and corrects posture. The effect begins within 1-2 weeks, lasts about 3-4 months and requires repeat injections at regular intervals. Possible side effects include transient difficulty swallowing (dysphagia) and neck weakness. Oral drugs (anticholinergics, baclofen, clonazepam) are less effective and are generally used as adjuncts. Physiotherapy, postural training, teaching the use of the sensory trick and pain management play a supportive role.
Surgical Treatment: Deep Brain Stimulation (GPi-DBS)
In patients refractory to maximal botulinum toxin and oral therapy whose function is markedly impaired, bilateral deep brain stimulation of the globus pallidus interna (GPi) is considered. High-frequency stimulation reduces dystonic contractions; significant improvement can be achieved in suitable cases, and the effect persists in the long term. Possible complications include dysarthria (speech disturbance), infection and haemorrhage. Primary dystonia, preserved cognitive function and appropriate age are important determinants in candidate selection.
Prognosis
Cervical dystonia is generally a chronic condition; spontaneous and lasting remission is rare. Botulinum toxin therapy provides marked improvement in pain and posture in most patients, but treatment must be ongoing. In refractory cases, DBS can offer long-term improvement. Early diagnosis and treatment reduce secondary degenerative changes caused by chronic abnormal posture. The treatment plan is individualised for each patient, and no outcome can be guaranteed in advance.
Referências
- Greenberg MS. Greenberg's Handbook of Neurosurgery. 10th ed. Thieme; 2023:1844-1845.
- Winn HR, ed. Youmans Neurological Surgery. 6th ed. Saunders; 2011:996-1001.
- Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28(7):863-873.
- Simpson DM, Hallett M, Ashman EJ, et al. Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache. Neurology. 2016;86(19):1818-1826.
Este artigo é informativo e não substitui um exame médico. As decisões de diagnóstico e tratamento são individuais.