Adult-onset Idiopathic Torticollis

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Original Editors

Lead Editors - David Cameron, John Fite, Bryan Purkey, John Winkelhaus.  Read more.

Search Strategy

Databases: Cinahl, PubMed, Google Scholar, Cochrane Library, Ebsco

Search Terms: cervical dystonia, torticollis, adult torticollis, spasmodic torticollis, physical therapy, rehabilitation, Parkinson disease, Wilson Disease, post traumatic torticollis,

Search Dates: April 5-12, 2011

Definition/Description

Adult Torticollis, also referred to as cervical dystonia or spasmodic torticollis, is a condition in which the muscles that control the neck are locked in a sustained involuntary contraction. These contractures can commonly cause twisting, repetitive movements, or abnormal posturing of the neck. Depending on the severity, it can be a very painful condition that may lead to a great deal of distress. Presentations of torticollis are defined using causal terms such as acute, congenital, chronic, aquired, idiopathic, or secondary.

Epidemiology /Etiology

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Idiopathic cervical dystonia (ICD) is the most common form of adult-onset focal dystonia. The prevalence of dystonia is difficult to ascertain. On the basis of the best available prevalence estimates, primary dystonia may be 11.1 per 100,000 for early onset cases in Ashkenazi Jews from New York area, 60 per 100,000 for late onset cases in Northern England, and 300 per 100,000 for late onset cases in the Italian population over age 50. The chart in figure 1 displays that most of the cases were reported in the age group of 31 to 40 years of age, which indicates the prevalence of adult-onset idiopathic cervial dystonia. 

This common disorder is characterized by involuntary muscle contractions in the neck musculature; however, the pathogenesis is unknown in most of the cases. Although the pathogenesis is idiopathic, two causes have been hypothesized and have been extensively researched, and there has been clear evidence that they play a role in the onset of adult-onset focal dystonia. These two causes are:

Genetics:
There are three observations that support the hypothesis that an abnormal gene is responsible for a proportion of ICD. These hypotheses are as follows:
(i) In families with childhood-onset idiopathic torsion dystonia, for which a genetic basis has been established, family members may have focal cervical or segmental dystonia
(ii) It has been recognized since 1896 that torticollis may affect siblings, and adult-onset torticollis may affect multiple generations
(iii) A significant percentage of first degree relatives of patients with focal dystonia have focal dystonia or tremor, and in families of patients with ICD, the prevalence of focal dystonia is higher than expected

Trauma:
The prevalence of patients with cervical dystonia related to trauma is 5-21%. Injuries sustained as a result of trauma had immediate pain followed by the onset of cervical dystonia with near total neck immobility within a few days. There was no morning relief and the dystonia persisted during sleep. The presence of cervical dystonia persisted for up to four years after follow-up and responded poorly to medications and botulinum toxin. It is important to note that none of the patients who sustained trauma had a family history of dystonia.

Other:

Another possible cause of Idiopathic Cervical Dystonia (ICD) that has been researched is abnormalities in the brain structures. A conventional MRI Class IV study T2 bilateral abnormalities in the lentiform nucleus in ICD. However, the abnormalities were only detected on calculated T2 values; no obvious signal changes could be recognized on visual inspection of T2-weighted images. Structural changes in the lentiform nuclei, predominantly in the contralateral pallidum in patients with adult-onset focal dystonia, have been suggested by increased echogenicity of these structures on transcranial sonography. (Albanese)

Characteristics/Clinical Presentation

Adult torticollis, also known as cervical dystonia, presents as the rotation of the head or chin towards the shoulder. Repetitive jerking of the head may be present with spasms that can be intermittent, clonic, or tremulous. Cervical dystonia can cause disabling pain and most patients exhibit a lack of postural control. Unlike other dystonias, cervical dystonia will present with pain around 75% of the time.. Alterations in vestibular function and perception of body orientation, such as differences in the vestibule-ocular reflex, vestibular hyperreactivity, and trouble recognizing postural and visual vertical may be present. The symptoms have been known to change in nature and direction. In Torticollis the side that the chin rotates to decides how the condition is described. For example, if the chin is turned to the left then it would be described as “left turning torticollis”.

Differential Diagnosis

Conditions the physical therapist should consider during initial evaluation and subsequent treatments include, but are not limited to:

Parkinson Disease: May present with head in a posture resembling torticollis. Will likely test positive for other nervous involvement. Tremor will be present in a sinusoidal oscillatory pattern. The therapist may also notice unsteadiness of gait, rigidity, and dyskinesia.

Post-traumatic dystonia: History of recent trauma to the body region experiencing dystonia. Considered a type of secondary dystonia, onset of symptoms may come immediately after insult, or up to 12 months following. An estimated 5-21% of patients with cervical dystonia have a history of a trauma to the head or neck, although it is unclear whether the insult acted as the “trigger” for the condition.

Wilson Disease: Wilson disease is an inherited disorder that can cause an accumulation of copper in the body. For a patient under age 40, with unexplained gradual onset of symptoms, a screen for Wilson disease is indicated.

Adult-onset idiopathic torticollis: Gradual onset of symptoms, with up to 75% of patients reporting concurrent neck pain. May also present with jerking movements, transient spasms, shoulder elevation, stiffness/tightness, and tremor.

Examination

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Medical Management (current best evidence)

Pharmacologic:
Oral Medications: Pharmacological medications taken orally provide only modest symptomatic benefit in the treatment of dystonia. The main purpose of oral medications is the avoidance of the causative agents. In early stages of Cervical Dystonia, medications used in low doses (ex. benzodiazepines, baclofen, or anticholinergic agents) may be useful. Anticholinergic agents were reported to have better outcomes than in those receiving benzodiazepines or baclofen. Side effects may include dry mouth, cognitive disturbances, diplopia, drowsiness, glaucoma, or urinary retention.

Intrathecal Baclofen (ITB): This type of pharmacological intervention has been used most commonly for the treatment of hypertonicity in various clinical populations, where it has been shown to have good success. ITB was shown to be effective in treating generalized dystonia, particularly when the catheter was placed above the level of T4. Out of the 77 subjects in the trial that received ITB pumps, subjects had significantly lower dystonia scores, according to the Barry-Albright Dystonia Scale, at 3, 6, 12, and 24 months. 86% of those subjects reported improved quality of life and ease of care.

Botulinum Toxin: The introduction of chemodenervation with botulinum toxin radically changed the prognosis of patients with idiopathic cervical dystonia. It is the most commonly used pharmacotherapy for overactive, dystonic, cervical musculature. Botulinum toxin A provides graded, reversible denervation of the neuromuscular junction by preventing the release of acetylcholine from the presynaptic axon of the motor end plate. This treatment is now the first line therapy for cervical dystonia, but its true efficacy is still unknown. However, botulinum toxin benefits the highest percentage of patients in the shortest amount of time. The most important aspect to consider when administering the botulinum toxin is identification of the sites of pain and the muscles responsible for the abnormal posture. The sternocleidomastoid (SCM), trapezius, splenius capitus, and levator scapulae are the most commonly injected sites. A benefit from botulinum toxin is generally seen within the first week, but may rarely be delayed for up to eight weeks. The benefit lasts for an average of twelve weeks and most physicians suggest repeating injections every 3-4 months. Medications are generally used as adjuncts to botulinum toxin, although no trial has sought to demonstrate a synergistic effect. Side effects to this treatment approach may include injection site pain, dysphagia, dry mouth, excessive weakness of the injected or adjacent muscles, and fatigue.

Surgical: to be continued...

Physical Therapy Management (current best evidence)

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Key Research

Crowner BE. Cervical dystonia: disease profile and clinical management. Phys Ther. 2007;87: 1511–1526.

Resources

http://emedicine.medscape.com/article/1152543-overview
http://www.stclinic.com/?gclid=CKvI-cPil6gCFZcC2godkgzjDQ

Clinical Bottom Line

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Recent Related Research (from Pubmed)

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References 

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