Torticollis Clinical Presentation

Of patients with torticollis (cervical dystonia), 80-90% fall into the idiopathic category, typically without a family history. A positive family history suggests that the case in question may in fact be a residual form of an inherited generalized dystonia. The remaining 10-20% of patients with torticollis (cervical dystonia) fall into the posttraumatic category.

Other neurologic problems can mimic torticollis, and the practitioner should be alert to a history of adversive seizures, homonymous hemianopsia, and various ocular disturbances that lead to head tilt, including a variety of cervical spinal deformities, ocular palsies, congenital nystagmus, labyrinthine disease, and probable cervical adenitis. A positive history of chronic neuroleptic drug use may call attention to possible tardive dystonia.

Psychological factors such as depression or anxiety also may play a role. A very careful history should be taken, and thorough physical examination should be performed to try to discover the cause.

Idiopathic cervical dystonia

Idiopathic cervical dystonia demonstrates a slowly progressive course initiated in patients aged 30-50 years. Details of the extent of dystonia (including dystonic speech, involvement of upper limbs, other body parts with painful sustained contractures) may suggest a genetic or more generalized form of dystonia but can also occur as a natural progression of cervical symptoms over time.

Jahanshahi et al reported progression of dystonic symptoms to extranuchal but still cervical innervated sites (hand, arm, oromandibular region) in 32% of 72 patients with adult-onset cervical dystonia.^[31] In addition, Comella et al observed both clinical dysphagia and subclinical swallowing motility disturbances in such patients.^[32]

Action-induced or activity-induced worsening of torticollis and dystonia are typical, as are variable periods of lessened symptoms in the morning (ie, morning benefit). The symptoms are usually worsened by standing, walking, and stressful situations. Patients often discover certain sensory tricks (ie, gestes antagonistiques) that reduce head and neck movement (eg, touching the face in a particular spot with the thumb). The absence of sensory tricks can help distinguish acute traumatic torticollis and nondystonic torticollis from idiopathic and delayed dystonic torticollis.

Of patients with cervical dystonia, 10-20% experience spontaneous self-limited remissions that may be quite brief or last as long as 2-3 years. Patients most frequently present with torticollis unprovoked or after sleeping in an awkward position. Acute torticollis develops overnight and results in painful, palpable neck spasms the following morning. Symptoms usually resolve spontaneously within a few days, lasting no more than 1-2 weeks. It is treated with conservative, symptomatic management like analgesics, massage, exercise, and stretching.

Posttraumatic cervical dystonia

Posttraumatic cervical dystonia is divided into 2 subtypes, acute onset (initiated immediately to a few days after head and neck trauma) and delayed onset (3-12 mo after head and neck trauma).

Characteristics of acute posttraumatic cervical dystonia include local pain immediately following trauma such as concussion or whiplash injury, followed within days by a marked limitation in range of motion (ROM) of the neck and an abnormal posture of the head (without phasic components), elevation of the shoulder, and eventual hypertrophy of the trapezius. Two characteristics distinguish acute posttraumatic from idiopathic and delayed posttraumatic cervical dystonia: (1) no increase in symptoms with effort and (2) no inhibitory response to sensory tricks.

Delayed-onset posttraumatic cervical dystonia is nearly identical to idiopathic cervical dystonia and includes activation by effort and the ability to minimize symptoms by the use of sensory tricks.

Whether occupational overuse or subacute recurring trauma can lead to cervical dystonia, as hypothesized with focal hand dystonia (writer's cramp) or musicians' syndromes, is uncertain.^[33]

The primary goal in physical examination is to locate evidence for torticollis or cervical dystonia as the obvious primary finding representing the primary process, with additional dystonic features in the limb or hand being minimal and typically unilateral. Generalized dystonia does not reinforce the diagnosis but draws attention to idiopathic torsion dystonia/genetic forms of dystonia. The presence of craniofacial asymmetry indicates congenital or long-standing torticollis.

Patients with traumatic torticollis should be immobilized. Midline cervical tenderness suggests cervical spine trauma or osteomyelitis. In other cases, active and passive range of motion (ROM) should be evaluated.

The posterior pharynx should be examined for signs of inflammation and infection. The neck should be palpated for masses, adenopathy, or focal tenderness. A complete neurologic examination should be performed, including strength testing, sensory deficits, and gait.

Characterization of head and/or neck posture includes tonic components and dystonic head movements (phasic components).

Tonic head and neck posture (when chronic, may cause scoliosis)

In rotational torticollis, the head is turned around the long axis with nose and chin toward the shoulder; this is the most common head and neck deviation. This is not synonymous with torsion dystonia, a generalized dystonia named for rare athetoid components. Tone and bulk increase are appropriate in the sternomastoid contralateral to the direction of turn.

With simple torticollis, no head tilt is present. Document the increased tone of neck muscles as symmetric or absent, hypertrophied, or normal. In laterocollis, the head tilts to one side with the ear toward the shoulder; asymmetric tone and muscle bulk are also present. In anterocollis, the head tilts forward with chin toward the chest, and the anterior cervical muscles are increased in tone and bulk. In retrocollis, the head tilts in hyperextension, with increased tone and bulk in the posterior cervical muscles.

Phasic head components include the following:

• Spasmodic jerks:- Rapid, irregular clonic jerks with less rapid recovery toward the neutral position
• High-frequency oscillations: Horizontal, vertical, mixed, or irregular tremors

Other dystonic features

Extranuchal dystonias may occur on the side ipsilateral to the cervical dystonia (if bilateral or contralateral, consider more generalized or torsion dystonias). Oral, facial, or mandibular dystonias occasionally are associated with blepharospasm and laryngeal dystonia but not with neuroleptic use.

Nondystonic findings include the following:

• Swallowing difficulty (trouble initiating)
• Cervical radiculopathies (secondary to bony changes)
• Ulnar neuropathy secondary to performing sensory tricks
• Reactive depression, self-consciousness

Congenital torticollis

Patients with congenital muscular torticollis often have a firm, nontender, palpable soft-tissue mass in the sternocleidomastoid (SCM) muscle shortly after birth. This mass, which is more often localized near the clavicular attachment of the SCM, usually enlarges during the first 4-6 weeks of life and then gradually decreases in size. By age 4-6 months, the mass is usually absent, and the only clinical finding is the contracture of the sternocleidomastoid muscle and the torticollis posture. The head characteristically tilts toward the side of the mass with the chin rotated in the opposite direction.