Torticollis

Torticollis, also called cervical dystonia or wry neck, is a movement disorder with involuntary muscle contractions (i.e., dystonia), characterized by a twisted head and neck posture at the cervical spine region. This results from an atypical contraction of the sternocleidomastoid muscles, which connect the sternum and the associated left or right clavicle to the ipsilateral mastoid process, a bony prominence located just behind the ear. In general, contraction of the sternocleidomastoid muscle causes the head to turn to the opposite side (i.e., lateral rotation) and down (i.e., contralateral neck flexion). In torticollis, atypical contraction of the sternocleidomastoid can result in persistent downward head tilting and to one side of the neck. Sometimes, it can also cause the head to tilt backward.

There are several causes of torticollis which can be used to classify the various types. The three types of torticollis are spasmodic, congenital, and iatrogenic.

The most common form of torticollis is  spasmodic torticollis which begins in adulthood and has no underlying cause. There may, however, be some genetic susceptibility to spasmodic torticollis, such as a mutation in GNAL or THAP1 genes.

Less commonly, congenital torticollis, or congenital muscular torticollis, is present at birth or presents shortly afterwards. It can be the result of a birth injury and may lead to formation of a fibroma or hematoma on the sternocleidomastoid muscle,  limiting movement. This may result in the sternocleidomastoid muscle being tight and short. Additionally, some individuals with congenital torticollis may have underlying spinal abnormalities, such as in Klippel-Feil syndrome, where the vertebrae in the cervical spine are fused together, or in cases of an atlanto-occipital fusion, where the first cervical vertebrae (i.e., atlas) is fused to the occiput. 

Finally, iatrogenic torticollis refers to a cervical dystonia as a side effect of medication use, such as dopamine agonist medications (e.g., rotigotine).

Torticollis can be permanent depending on the type and cause. For instance, congenital torticollis is typically permanent without surgical intervention, whereas spasmodic torticollis is often intermittent and recovery can be spontaneous. Nonetheless, torticollis usually returns even if there is a period of remission.

The primary symptom of torticollis is head tilting towards the shoulder and sometimes neck pain on the tilted side. The three other directions the head can tilt include forward (i.e., anterocollis), backward (i.e., retrocollis), or toward one side of the neck (i.e., laterocollis). Often individuals with torticollis will have a limited range of motion of their head and neck. Sometimes an individual will also experience a postural hand tremor when the hands are outstretched. The symptoms typically begin gradually and progressively worsen.

Sometimes secondary complications can arise, like cervical spine arthritis and nerve root compression. These complications can contribute to neck pain, which can become progressively more severe.

Diagnosis typically begins with a medical assessment including a review of signs and symptoms and family and medical history, followed by a physical and neurological examination. This exam can also include electrodiagnostic tests to measure the electrical activity in the sternocleidomastoid muscle and determine if there is nerve damage.

Torticollis can be treated with a combination of physical therapy and medications. A physical therapist or osteopathic physician may teach stretching exercises to improve neck flexibility or sensory tricks to help relieve spasms, like lightly placing a hand against a cheek to relieve contractions. One of the simplest exercises for infants with congenital muscular torticollis is known as tummy time. Over time, the infant gains more control over their neck movements.  

The primary medication used for treatment are injections of botulinum toxin, which can relax the muscle and relieve symptoms often for a couple months. Less commonly prescribed medications include anticholinergic agents, like trihexyphenidyl; sedatives, such as benzodiazepine; muscle relaxants, like baclofen; or anti-seizure medications, such as carbamazepine. For iatrogenic torticollis, the causative agent is typically slowly withdrawn or limited. 

Surgery may be utilized for severe congenital spinal abnormalities in order to separate the fused bones. Some individuals who become less responsive to medications may receive deep brain stimulation surgery, where electrodes are placed directly onto a part of the brain to send small electrical stimulation. More rarely, a surgery may be performed to cut select peripheral nerves associated with the dystonia, however, this is not commonly performed due to the high risk of side effects and long rehabilitation. 

Torticollis is a type of muscular dystonia or movement disorder characterized by a twisted neck where the head tilts to one side. There are three different causes: idiopathic, congenital, and iatrogenic. Although torticollis can disappear for a period of time, it often returns. The main symptom of torticollis is commonly the abnormal head and neck tilt and associated neck pain. Diagnosis occurs through medical assessment, including a neurological examination. Treatment typically involves a combination of physical therapy and medications, most often botulinum toxin injections.