Introduction

Imagine not being able to carry out daily activities due to suffering from involuntary muscle contractions in your neck and shoulders - this is what it is like for those with Spasmodic Torticollis (ST). This condition, also known as cervical dystonia, is the most common type of focal dystonia, a neurological disorder involving involuntary spasms.¹ ST is characterised by atypical involuntary contractions of the neck and shoulders, but there are other types which affect different areas of the body, including the mouth (oromandibular dystonia) or the eyes (blepharospasm).^2,3 Dystonia can impact people of all ages, including children, but its onset mainly occurs in young adults and middle-aged individuals, affecting around 70,000 people in the United Kingdom.⁴ Studies have shown ST to be more prevalent amongst women; however, there is currently no clear explanation to account for this difference.⁵ This condition is particularly unpredictable, with symptoms ranging from mild discomfort to debilitating pain, with the exact cause of this remaining unknown. However, despite this, being able to understand the different symptoms associated with ST and exploring effective management options can be life-changing, especially as this condition affects patients' overall quality of life.¹

In this article, everything you need to know about ST will be broken down, from its main symptoms and risk factors to the most current management and treatment options available to date. Therefore, whether you are someone who has recently been diagnosed with ST, a caregiver or just curious about this neurological condition, this comprehensive article will provide you with the right knowledge and tools to navigate this disorder. 

Primary and secondary cervical dystonia 

Based on what causes cervical dystonia in an individual, patients can be divided into two main groups:⁶

• Primary: This type of cervical dystonia is idiopathic, meaning that its cause is unknown. It is the most common type of dystonia, and its origin is believed to be caused by a variety of different factors, including a combination of genetic and environmental factors¹ 
• Secondary: Unlike in primary cervical dystonia, the cause of secondary dystonia is known and is attributed to external factors. These include trauma (i.e., damage to certain brain structures such as the basal ganglia), the use of certain types of drugs (i.e., antipsychotics such as clozapine) and neurodegenerative diseases (i.e., parkinson's disease)

Symptoms of spasmodic torticollis

Motor symptoms

Spasmodic torticollis (or cervical dystonia) is a form of dystonia involving the neck muscles, making it difficult for patients to control the position of their head due to involuntary muscle contractions, causing them to twist and adopt abnormal postures.^6,7 These postures impair both the speed of voluntary movement and the quality of movement in patients. The pattern of neck muscles involved is variable, causing this condition to be divided into different subgroups, including a combination of neck rotations (rotating torticollis or rotatocollis), extension (retrocollis), flexion (anterocollis) or either a sagittal or lateral shift, depending on the different clinical manifestations.⁶ It is common for a mixture of subtypes to manifest in patients, with studies showing over 66% of patients to have a combination of actions.^1,8

Individuals may also have additional symptoms and signs, including

• Spasms
• Tremors
• Abnormal head postures (tilting, turning, or jerking movements)
• Neck pain or discomfort
• Shoulder elevation
• Arm tremor
• Sensory tricks

Despite these symptoms, there are no current diagnostic guidelines that allow cervical dystonia to be differentiated from other disorders of the neck that may simulate this. As a result, cervical dystonia is often misdiagnosed due to the wide variability of clinical features present in patients.⁴ 

Non-motor symptoms 

Together with the motor symptoms included above, patients with cervical dystonia may also experience non-motor symptoms. These include:

• Mood disorders, such as depression and anxiety 
• Sleep disturbances, such as poor sleep efficiency, increased awakening and reduced REM
• Fatigue
• Behavioural problems
• Cognitive impairment, such as problems concentrating or completing a task

While cervical dystonia can affect people of all ages, including children, symptoms most commonly begin to arise between the ages of 40 to 60 years.⁶ 

Management and treatment options

ST has severe effects on both the daily activities and quality of life of those with the condition, which is why finding the right treatment and learning how to manage it are essential. However, the specific cause or causes remain undefined, and there is no affirmed cure. 

Despite this, the most common line of therapies includes medical interventions and non-invasive treatments. The medical interventions include:⁹

Botulinum toxin

Botulinum toxin injections, more commonly known as Botox, are currently the most prevalent first-line therapeutic approach.⁹ However, it does have certain side effects, including lowered pain tolerance over time, which causes the alleviating effects on muscles to diminish. This has the potential to cause other side effects. 

Surgical treatment

This line of therapy is implemented when the use of botulinum toxin and oral medications, such as dopamine-related drugs (levodopa) and anticholinergics (benztropine), is not sufficient.⁹ Similarly to the Botox injections, these treatments can also lead to complications. 

Some of the surgical treatments that are implemented include:

• Deep brain stimulation (DBS)
• Selective peripheral denervation (SPD), a procedure where the nerves are removed from the affected nerves or muscles

Non-invasive treatments

The most popular form of non-invasive treatment includes rehabilitation therapy. This presents substantial clinical value, as it comes with low risks and minor side effects. 

• Rehabilitation therapies used for ST include: Exercise therapy: it involves specific movements or equipment for exercise training in order to regain normal bodily functions
• Transcranial magnetic stimulation therapy (TMS): a non-invasive brain stimulation technique used for relieving muscle tone disorders by adapting the excitability and plasticity of different brain areas

As well as the ones mentioned above, other therapies include vibration therapy, neuromuscular electrical stimulation, and shock wave therapy. 

Summary

Spasmodic Torticollis (ST), also known as cervical dystonia, is a neurological disorder characterised by involuntary muscle contractions in the neck and shoulders, leading to abnormal head postures, spasms, and significant discomfort. Affecting approximately 70,000 people in the UK, the condition primarily arises in young to middle-aged adults, with women being more commonly affected.

While the exact cause remains unclear for primary ST, secondary cases are linked to trauma, medication use, or neurodegenerative diseases. This condition severely affects patients' ability to perform daily activities, and subsequently their overall quality of life, which is why finding the right treatment and learning ways to manage this. 

ST presents with both motor symptoms, such as tremors and abnormal postures, and non-motor symptoms, including mood disorders, fatigue, and sleep disturbances. Unfortunately, the lack of standardised diagnostic guidelines often results in misdiagnosis. The management of ST focuses on alleviating symptoms through medical and non-invasive treatments, including Botulinum toxin (Botox) injections, which are the first line of therapy, though their effects may diminish over time.

When these are insufficient, surgical options like deep brain stimulation or selective peripheral denervation may be considered. Non-invasive therapies, including rehabilitation exercises and transcranial magnetic stimulation, offer promising results with minimal side effects. Although there is no cure for ST, understanding its symptoms, causes, and available treatments can empower patients and caregivers to manage the condition effectively and improve overall well-being.