Cervical dystonia is a condition causing uncontrollable spasms in the craniocervical region, caused by irregular muscle contractions. The head and neck may begin to twist, tilt, or display movements directed forwards, backwards or to the sides. Symptomatology is not definitive and many manifestations are possible, including a combination of motions, as opposed to a single abnormal movement. Physical exercise and emotional stress are known to account for a deterioration in the clinical picture, while resting and some simple sensory maneuvres (touching the head in a specific spot) can alleviate the symptoms.

The following list includes possible symptoms experienced by patients:

• Uncontrollable motions in different directions, followed by inability to reverse this unusual posture or prevent it.
• Head jerks, twisting movements (inclined head, rotations).
• Uncontrollable spasms in the neck.
• Pain in the craniocervical region.
• Abnormal vestibular function.
• Positive response to sensory maneuvers (tricks). A patient may experience a relief from symptomatology by touching the head, face or neck in a specific region, which varies from patient to patient.
• Abnormal perception of body position and orientation.

Spasmodic torticollis is deemed a debilitating disease by nearly the majority of the patients. Social interactions are adversely affected and patients with dystonic symptomatology are often marginalized by society itself, given the negativity with which the condition is seen. This leads to a lot of patients suffering from depression; 25-40% of them are unemployed due to the condition.

• Movement Disorder

  Bhatia, The entity of young onset primary cervical dystonia, Movement Disorders, 22, 6, (843-847), (2007). [doi.org]

  The abnormal posturing of the head allows this disorder to be clinically diagnosed. Psychiatric symptoms frequently accompany or precede the diagnosis of the movement disorder. [ncbi.nlm.nih.gov]

  Frei is a neurologist specialized in the field of neurogenetics, and has conducted clinical trials on a number of movement disorders, including spasmodic torticollis. Dr. Truong is a neurologist and movement disorders specialist. [books.google.com]

• Disability

  The majority of patients show steady progression of their focal dystonia and reach maximal disability after five years; neck pain occurring in 70-80% contributes significantly to disability. [ncbi.nlm.nih.gov]

• Unconsciousness

  Biofeedback (using relaxation techniques to control unconscious body processes, such as heart rate and muscle tension) or massage may help some people. People may find certain tricks that may briefly relieve spasms. [msdmanuals.com]

  Fatal outcomes were significantly associated with being elderly; no administration of ribavirin; and the presence of a cough, hemorrhaging, and unconsciousness. [cdc.gov]

• Pallor

  Benign paroxysmal torticollis is a self-limited condition common in infants characterized by repetitive episodes of head tilting with vomiting, pallor, irritability, ataxia, or drowsiness and usually presents in the first few months of life. [emedicine.com]

• Torticollis

  OBJECTIVE: The aim of this study was to compare the effects and complications of microvascular decompression (MVD) and neurectomy of spinal accessory nerve in the treatment of laterocollis and torticollis subtypes spasmodic torticollis (ST). [ncbi.nlm.nih.gov]

• Muscle Spasm

  When these muscles spasm, they cause the head to bend and turn. This leads to lack of movement in the neck as well as the shoulder. As with any muscle spasm, stretching, massage, and increasing the circulation to the area are recommended. [ezultrasound.com]

  Postural hypnosis (i.e., hypnosis in the standing position) was employed to counteract and minimize muscle spasms due to postural reflexes. [ncbi.nlm.nih.gov]

  Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. [icdlist.com]

  Related Concepts SNOMET-CT Spasmodic torticollis (disorder) Muscle spasm of cervical muscle of neck (disorder) Spasmodic retrocollis (disorder) Coding Advice SNOMET-CT Possible requirement for causative agent code ICD-10-CM Alphabetical Index References [icd.codes]

• Neck Pain

  The disorder starts between 25 and 60 years with head deviation or neck pain. Sometimes, there are personal or familial extrapyramidal antecedents (tremor, dystonia). The role of a preceding neck or head trauma is unsettled. [ncbi.nlm.nih.gov]

  Many people who have cervical dystonia also experience neck pain that can radiate into the shoulders. The disorder also can cause headaches. In some people, the pain from cervical dystonia can be exhausting and disabling. [mayoclinic.org]

  Other symptoms include muscle hypertrophy, neck pain, dysarthria and tremor. Studies have shown that over 75% of patients report neck pain, and 33% to 40% experience tremor of the head. [en.wikipedia.org]

  The pain may become worse and, in many cases, severe. Symptoms will generally settle on one side of the neck; a shoulder may be higher; pain, numbness or tingling sensations may be felt in the arm or hand. [necksolutions.com]

• Dystonia

  Khashayar Dashtipour and Mark Lew, Cervical Dystonia, Handbook of Dystonia, 10.3109/9781420019988.010, (137-153), (2010). [doi.org]

  Cervical dystonia has important psychosocial consequences: many patients have to withdraw from their job or from social activities. [ncbi.nlm.nih.gov]

  […] the global effort to find a cure for dystonia Current Dystonia Research Investigations The Dystonia Medical Research Foundation (DMRF) prides itself on a long history of supporting and stimulating dystonia research. [dystonia-foundation.org]

• Tremor

  The tremor frequencies were indistinguishable from physiologic tremor. Further analysis of the tremor records showed evidence for physiologic tremor mechanisms only. [ncbi.nlm.nih.gov]

  Surgical therapy for tremor and dystonia is also covered. [books.google.com]

• Involuntary Movements

  Each improved, with a decrease in involuntary movement and reduction in pain. None had either systemic or local side effects. [ncbi.nlm.nih.gov]

  Cervical dystonia (spasmodic torticollis) covers a spectrum of involuntary movements with abnormal posture of the head and shoulder/neck region. Post-stroke spasticity of the upper limb imposes a considerable humanistic burden. [msac.gov.au]

  Spasmodic Torticollis (ST), also known as Cervical Dystonia, is characterized by involuntary movements of the head as a result of muscle spasms in the neck and shoulders. [umanitoba.ca]

  Abnormal Involuntary Movements. British Journal of Psychiatry, Vol. 155, Issue. 05, p. 707. [bjp.rcpsych.org]

• Confusion

  Beginning with a clear definition of the disorder, opening chapters categorize this neurologic disease as one of the broader category of movement disorders, and differentiate it from other conditions with which it is often confused. [books.google.com]

  Cervical dystonia should not be confused with other conditions which cause a twisted neck such as local orthopedic or congenital problems of the neck, or ophthalmologic conditions where the head tilts to compensate for impaired vision. [dystoniacanada.org]

  However, these drugs also have other, troublesome side effects (such as confusion, drowsiness, and dry mouth), which may limit their use. All of these drugs are started in low doses. [msdmanuals.com]

• Seizure

  The observation suggests that spasmodic torticollis may develop as a sequel to trauma in head-injured patients and should be differentiated from posttraumatic seizures. [ncbi.nlm.nih.gov]

  Serious side effects are seizure (1.2%), intracerebral hemorrhage (0.6%), intraventricular hemorrhage (0.6%), and large subdural hematoma (0.3%). [en.wikipedia.org]

  Spasmodic Torticollis Complications Patients may experience side effects from a number of medications and other treatment methods, which might include the following: Fatigue Seizures Diplopia Infections Glaucoma Dry mouth Headaches Drowsiness Urinary [hxbenefit.com]

  Sporadic and familial varieties of tonic seizures. J Neurol Neurosurg Psychiatry 1963; 26: 51–9 PubMed CrossRef Google Scholar 50. Smith LA, Heersema PH. Periodic dystonia. Mayo Clin Proc 1941; 16: 842–6 Google Scholar 51. [doi.org]

A typical approach to an individual displaying dystonic symptoms is a detailed medical history. It is vital, since around 40% of the patients also report cases of dystonia or related motility disorders in their family. Secondly, CD may be caused by various underlying diseases. A physician has got to perform diagnostic tests to eliminate or confirm conditions such as Wilson's disease, brain ischemia, brain traumatization, lipid storage disease, Parkinson's disease and Huntington's disease and other conditions. It is vital to investigate the potential existence of an underlying condition, as treating them will lead to the eradication of the dystonic symptoms. 

CD may also be caused by certain medications, given to treat other conditions. A detailed medical history including medications previously administered to the patient will help to identify a drug as the specific cause of cervical dystonia. Drugs that can lead to the onset of dystonic symptomatology include dopamine antagonists, antiepileptics, metoclopramide, haloperidol.

The tests that should be performed vary, depending on the suspected underlying disease. However, MRI or CT scans of the brain are especially important in younger patients (children), as they may illustrate lesions; hemorrhagic, ischemic lesions or lesions could account for a dustonic clinical picture. Should Wilson's disease be suspected, the eyes need to be examined under a slit-lamp for the existence of Kayser-Fleischer rings and a 24-hour urine analysis will help to detect increased levels of copper. Other tests that are performed include routine examinations like a blood workup, liver function tests, blood copper levels and ceruloplasmin levels. 

In patients that display dystonic clinical manifestations before the age of 30, a genetic tests for irregularities in the DYT gene is deemed necessary. The same guidelines pertain to individuals who have also had family members affeced by the same disese, irrespective of the age of onset.

Therapeutic schemes for cervical dystonia primarily center around the alleviation of symptomatology, as the condition is untreatable.

Medications

A combination of drugs is employed to achieve optimal results:

• Botulinum toxin, such as Botox, Xeomin and other agents, are administered IM to the muscle exhibiting abnormal contractions. These substances are paralyzing and are used in various conditions involving contractions and spasms (eg. spastic paralysis after stroke). Paralyzing agents do have a positive effect in the amelioration of the symptoms but have to be injected every 3-4 months.
• Parkinson's drugs. Commonly used in a combination schemes with botulinum toxin. Potential side effects are constipation, memory and visual impairment, reduced urinary stream or a dry mouth.
• Muscle relaxants, such as diazepam or clonazepam. They can be of little help, but are not first-choice treatment due to possible side effects (lethargy, imbalance and moderate cognitive impairment). 
• Painkillers, both medication that does not require prescription and prescription drugs, depending on the severity of the pain.

Therapy

Therapeutic procedures other than medication can help to reduce symptoms and manage the condition to a reasonable extent. Patients can work out in such a way so as to strengthen their cervical muscles. Since stress is a factor influencing adversely the symptomatology of cervical dystonia, patients can also profit greatly from learning how to manage stress; either individually, or via group therapy. Lastly, in cases where the symptomatology cannot be successfully addressed with these measures, a neck brace can be recommended, which has to be used prudently and only after a physician has advised it.

Surgical and other procedures

Surgical procedures are generally not widely employed in the treatment of cervical dystonia; they are primarily reserved for patients whose symptoms fail to ameliorate with medication and other conservative treatment options.

The first option is selective denervation surgery, and involves the surgical dissection of those muscles or nerves that are responsible for the clinical picture. Patients that do not improve clinically with the administration of drugs or paralyzing agents may be candidates for this procedure. The second option involves deep brain stimulation (DBS), a procedure which employs electrical currents that disable neuronal function in the regions of the brain that control the movement of the muscles responsible for each case of CD. Neither procedure is deemed routine and a potential candidate has to be evaluated carefully before any of them is performed.

Upon the onset of cervical dystonia, patients are expected to display a gradually deteriorating symptomatology. This phenomenon usually lasts for up to 5 years and then begins to stabilize. Approximately 1/5 of the patients or less may exhibit an amelioration of the clinical manifestation, but the symptoms can re-emerge any time, even after years.

It is estimated that 75% of the patients will be affected by painful phenomena that exceed the neck and head limits and spread to the shoulders. Intense regional contractions are also exhibited and are directly connected to the severity of the pain, which is widespread and debilitating, radiating from the direction to which the head tilts.

Stress is known to deteriorate the symptomatology of cervical dystonia. Another factor contributing to the worsening of the clinical picture is strenuous physical activity. Cervical dystonia also produces an uncommon outer appearance due to the spasms in the craniocervical region, which leads many patients to feel insecure and depressed. These feelings negatively affect a person's wish to socialize, lead to isolation and increase the amount of stress, which in turn, also provokes more intense symptoms.

Acquired torticollis is a condition with unknown causes. A definite genetic pattern of inheritance has not been identified, however, since 10-20% of patients do have family members affected from dystonia, genetic contribution cannot be excluded [12]. There are certain abnormalities, such as DYT-6 and DYT-7 (dystonia 6 and 7) which have been found to exist in a minority of patients on chromosome 8 and 18 respectively. Their role is limited, as they are not involved in the majority of the dystonic cases [13].

There has also been an association of cervical dystonia with head trauma. Some individuals have experienced traumatization to the head prior to the onset of dystonic conditions, but it is still unknown whether it can cause the condition or trigger it. Dopamine antagonists, most frequently used to treat psychiatric conditions, can lead to torticollis. This phenomenon, since it is observed after prolonged use of this specific drug category, is known as a tardive side effect, as opposed to an acute one and it has been exhibited by 3% of the patients who receive prolonged treatment with dopamine antagonists. Lastly, acquired torticollis can arise as a complication of neurological conditions affecting the basal nuclei, such as perinatal complications (asphyxia, cerebral palsy) or Wilson's disease.

Data from studies centered on spasmodic torticollis is mainly collected from Canadian research, as well as studies from the USA. With reference to the causes of the disease, a mere 10-20% of the patients were found to have experienced head traumatization prior to the onset. In the rest of the cases, causes remained unknown. A study from 1994 examined a multitude of patients in order to record the frequency of the condition and its predominant types [14]. Researchers drew the conclusion that the majority of the patients featured not only a single-direction dystonic movement, but a combination of them. The torticollis type most frequently observed was rotational torticollis, followed by latero- and retrocollis. The condition was termed "spasmodic torticollis" due to the dystonic motions which predominated in the clinical picture: head flexes and spasms. However, since the particular type of movement does not apply to all patients, who nevertheless belong to the same disease category, the preferred term has been adapted to cervical dystonia, which is more general. 

Ethnicity does not play any role in cervical dystonia, but the gender does; women and men are affected at a rate of 2:1 [15]. Idiopathic cervical dystonia is usually a condition arising in the age of 30-50 years. In cases of cervical dystonia following head trauma, the onset of the condition is expected to be within a few days after the incident (acute) and after 3-12 months (delayed). A medical rarity, congenital torticollis, affects <0.4% of newborn children [7].

Any dystonic condition involves pathophysiologic mechanisms that have yet to be fully understood, a fact that accounts for the absence of a definite cause for these conditions. Some patients display a certain dopamine deficiency and react dramatically to the administration of medication that increases dopamine activity (dopaminergic), rendering the involvement of dopamine in that disease's causality a possibility. This assumption is further supported by the clinical connection between dystonia and Parkinson's disease, as well as the fact that dopamine antagonists are known to cause cervical dystonia.

Conditions affecting the basal nuclei are also associated with cervical dystonia, a PET scan and a fluoro-MRI scan will most likely display increased metabolic activity of glucose in the premotor cortex and lentiform nucleus. Functional irregularities may also be observed in the primary motor cortex. Electrophysiologic studies have shown that patients with dystonic conditions exhibit dysfunctional inhibition of the CNS: nerve excitability fails to be suppressed when required and, as a result, electrical impulses are thought to be transmitted into the adjacent regions of the anatomical location they originate from, causing uncontrollable spasms and muscle jerking. The aforementioned alterations have not yet been identified as primary.

Maintaining a good physical condition, working out and stretching the region of the neck can prevent contractions from being intense. Other than that, patients being treated with neuroleptica can also receive benztropine prophylactically, to prevent the onset of cervical dystonia. 

Another term used for spasmodic torticollis is "cervical dystonia", with the term dystonic indicating that agonist and antagonist muscles are activated simultaneously to produce an abnormal movement [1]. The causes are unknown and the condition is primarily observed around mid-age. A minority of patients do develop torticollis because of a pre-existing condition. The therapeutic regime most often followed includes the administration of botulinum toxin (A) to relax the muscles.

Torticollis is an umbrella term which encompasses multiple conditions affecting the regions of neck and head, conditions vary depending on the type of the featured dystonic movement. Head movements are called phasic components and are outlined by the direction to which the head and neck move, namely horizontal, vertical, back-and-forth etc. Movements of the head can be balanced (tremor-like) or spasmodic (resembling clonic movements limited to the neck and head, with gradual recovery). The term torticollis originates from the Latin, tortus+collum, namely "twisted" and "neck".

Torticollis is a painful condition, causing a rigid or dynamic position of the head and neck, which are inclined, twisted and flexed. The turning or leaning of the head are caused by intense contractions of adjacent muscles, namely the sternocleidomastoid, trapezius, etc, which are usually more intense on one side than the other [2] [3].

Typical head positions of spasmodic torticollis include:

• Laterocollis: The head in inclined, with one ear leaning towards the shoulder. Caused by tonic contractions of the ipsilateral cervical muscles.
• Rotational torticollis: The head is rotated along the longitudinal axis.
• Anterocollis: The head and neck are flexed forward. Caused by tonic contractions of the anterior cervical muscles.
• Retrocollis: Both the head and neck are stretched. Caused by tonic contractions of the posterior cervical muscles.

Irrespective of the abnormal head position involved, all these clinical manifestations constitute different aspects of the very same entity. Researchers have also opted against the definition of "spasmodic torticollis" and used cervical dystonia instead, due to the fact that many patients featured neither simple twists nor spasmodic motions [4] [5]. Several patients exhibit motions combined in several ways, as reactions to dystonic motor control.

Torticollis is a symptom corresponding to various conditions. In order to better define it, characterizations are added, like acute torticollis, congenital torticollis, chronic torticollis, or acquired torticollis, idiopathic or secondary. Secondary torticollis indicates that it arises as a complication of an underlying pathology, like an odontoid fracture, cystic mass, cervical adenitis. Cervical dystonia is commonly caused by congenital problems, traumatization, and infections [2] [3] [6] [7] [8] [9] [10] [11].

Spasmodic torticollis is a condition otherwise known as cervical dystonia. It causes the muscles of the head and neck to contract uncontrollably in various directions: forwards, backwards, to the side etc, producing an uncommon outer appearance. Cervical dystonia may be a permanent condition, or it may arise in times of stress, subside and re-emerge again at a later time.

Causes

Nobody knows how spasmodic torticollis arises, which people are affected and the precise mechanisms. It has been observed after serious injury to the part of the spine that is near the neck or can be caused by another underlying condition. An individual who has relatives suffering from torticollis may be running a higher risk of developing the same or related conditions. 

Signs and symptoms

Difficulty in motions of the neck, neck or shoulder pain and headaches are common symptoms accompanying muscle contractions. Muscles can also be rigid, swollen or display spasms.

Diagnosis

Your doctor will take a detailed medical history, including other conditions, medication you have received and family history. A CT or MRI scan may also be required to check whether another condition is responsible for the dystonic movements of your head and neck. Do inform your doctor if you have ever had an allergic reaction to the contrast material administered in an MRI scan and make sure that you have removed anything metallic from you, before you enter the MRI chamber. It is also crucial to let your physician know if you have metallic implants of any kind in your body, as the MRI booth functions as a magnet and can cause serious injury. X-rays are also sometimes performed to detect any other conditions of the spine that could account for the same symptomatology as cervical dystonia. Lastly, an EMG test (electromyography) can identify problems with muscles and the nerves responsible for their motions. It is carried out while resting and moving, with needles placed in your muscles at the locations that need to be tested. The electrical activity is recorded through a monitor.

Treatment

Spasmodic torticollis can be treated with a variety of medications, including muscle relaxers, muscle paralyzers (such as botulinum toxin injections every 3-4 months) and painkillers. NSAIDs can also be used to minimize inflammation and pain. Do not attempt any medicinal treatment before you consult your doctor and keep in mind that each patient has to be treated individually. Medications such as painkillers can have serious side effects if taken without a doctor's orders, even though they can be bought without a prescription. Inform your doctor about any other medication you are currently taking, as well as about your allergies, if you have had any allergic reaction to a drug.

Should the medication fail to relieve a patient of their pain and general symptomatology, surgical options are also available. The muscles and nerves responsible for the abnormal contractions can be incised or electrically separated.

1. Geyer HL, Bressman SB. The diagnosis of dystonia. The Lancet Neurology 2006 5 (9): 780–790.
2. Tindall GT, Cooper PR. Spasmodic torticollis. Tindall GT,. Cooper PR, Barrow DL, eds. Practice of Neurosurgery. Philadelphia, Pa: Lippincott, Williams & Wilkins; 1996. Vol 3: 2636, 2807, 2969, 3236-7.
3. Wilkins RH, Rengachary SS. Spasmodic torticollis. Wilkins RH, Rengachary SS, eds. Neurosurgery. 2nd ed. New York, NY: McGraw-Hill; 1996. 4159-61.
4. Jankovic J, Leder S, Warner D, Schwartz K. Cervical dystonia: clinical findings and associated movement disorders. Neurology. 1991 Jul. 41(7):1088-91. 
5. Chan J, Brin MF, Fahn S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord. 1991. 6(2):119-26.
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12. Defazio G, Aniello MS, Masi G, et al. Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. Neurol Sci. 2003;24:168-169.
13. Singer C, Velickovic M. Cervical dystonia: etiology and pathophysiology. Neurol Clin. 2008;26:9-22.
14. Consky EA, Lang AE. Clinical assessments of patients with cervical dystonia. Jankovic J, Hallett M, eds.Therapy with Botulinum Toxin. New York: Marcel Dekker; 1994: 211-237.
15. Jankovic J, Tsui J, Bergeron C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat Disord. 2007 Oct. 13(7):411-6.