Introduction

Torticollis, also referred to as “twisted neck”, is a condition characterised by asymmetric positioning of the head and neck, such as rotation, flexion, or tilt. The most common type of torticollis in newborns, called “congenital muscular torticollis (CMT), arises due to the unilateral shortening (tightening on one side) of the sternocleidomastoid (SCM) muscle due to prenatal factors ( conditions affecting the baby while still in the womb)or perinatal trauma(injury during birth). On the other hand, acquired forms of torticollis occur in later life due to neurological or musculoskeletal causes.¹

Certain neurological conditions arising from torticollis, such as cervical dystonia or intracranial injury, present diagnostic difficulties in clinical settings due to overlapping symptoms with benign conditions.² As such, early and accurate diagnosis is necessary to enforce effective treatment strategies and prognosis. This article provides an overview of some of the neurological causes of torticollis to advance current understanding of the disease manifestation, and inform pharmacological and surgical interventions.

Chiari Malformation and other disorders linked to Torticollis

Chiari malformations (classified in types 1 to 4) are certain neurological structural abnormalities wherein the brain tissue extends downward into the spinal canal through an opening called the foramen magnum, thereby disrupting cerebrospinal fluid (CSF) flow and neural function. This condition involves compression of the cranial nerves and the brainstem, leading to motor deficits and neural dysregulation, as well as cerebellar and brainstem dysfunction, which impairs coordination and balance. This thereby contributes to symptoms observed in torticollis, such as muscle spasms, imbalance, postural instability and abnormal muscle tone.³

Chiari malformations are often accompanied by a condition called atlantoaxial instability, a condition of excessive movement between the first and second cervical vertebrae through alteration of the craniospinal alignment and increasing CSF flow disruptions.⁴

A significant link between Chiari malformation and torticollis lies in the function of the basal ganglia. Infarctions in the basal ganglia due to a condition called cervical dystonia lead to disruptions in the motor control pathways, leading to involuntary muscle contractions and abnormal neck positioning. Due to the compression at the craniospinal junction, impaired pathways for motor regulation affect communication with other parts of the brain, such as the cortex, thalamus, and spinal cord. Specifically, infarctions in the putamen region have been known to cause cervical dystonia, occurring contralateral to the direction of neck rotation.⁵ Additionally, structural and neurobiological changes arising from Chiari malformations influence upper cervical mechanics.

Diagnosis of Neurological Torticollis

Patient History and Symptom Onset

A comprehensive clinical assessment and diagnosis for torticollis would involve a thorough neurological and musculoskeletal examination. A clinician may enquire about the onset and progress of symptoms, whether symptoms developed gradually or suddenly. It is also important to assess if symptoms such as neck twisting were episodic or persistent, as well as the age of onset.

Family and Genetic History

The history would also involve an assessment of associated symptoms such as sensory disturbances, neurological signs such as tremors (for a differential diagnosis of movement and neurodegenerative disorders), pain, as well as weakness. A family history of such disorders would be obtained to suggest a genetic predisposition to certain neurological conditions.

Neurological and Musculoskeletal Examination

Neurological examinations involve assessing for muscle strength and tone, coordination, reflexes and cranial nerve functions to account for signs of dystonia (abnormal muscle contractions contributing to torticollis). Musculoskeletal examinations evaluate range of motion of necks, tenderness and abnormalities in joints and muscles to evaluate problems in the cervical spine.⁶

Imaging Studies

Laboratory and imaging studies play a crucial role in identifying biomarkers to aid clinical diagnosis and also in ruling out structural abnormalities not related to torticollis. A Magnetic Resonance Imaging (MRI) scan of the cervical spine and brain aids in identifying spinal cord compressions, stroke, tumours, or disc herniation that contribute to the condition. Additionally, a Computed Tomography scan (CT) may be used in emergency settings to identify acute issues such as structural abnormalities and haemorrhages.⁷

Electromyography and Nerve Conduction Studies

Similarly, an electromyography (EMG) may be used to evaluate the involvement of electrical activities in muscles, particularly in distinguishing musculoskeletal causes of torticollis and neurological conditions such as Parkinson’s disease. Additionally, EMG is useful in identifying signs of nerve damage and muscle spasms contributing to abnormal neck positioning.⁸

Laboratory Investigations

Lastly, laboratory workups are conducted to rule out infectious or autoimmune causes, including blood tests of inflammatory markers (ESR, CRP) and antibodies and infection markers for myositis, paraneoplastic syndromes and rheumatological disorders.⁹

Management and Treatment

Individualised Care Approach

Each case of torticollis differs in specific aetiology and severity of the condition and thus requires a personalised approach to improve the patient’s functionality and quality of life. In such cases, early intervention, especially in infants, is crucial to ensure better medical outcomes. Various medical and allied health professionals are involved in providing care for torticollis, such as neurologists (who diagnose and manage neurogenic causes), neurosurgeons (to address structural abnormalities), physiotherapists and occupational therapists (to design individualised exercise regimens and optimise daily functioning).¹⁰

Pharmacological Management

Specific pharmacological treatments play a critical role in managing symptoms in dystonic or spastic torticollis, such as botox (which reduces muscle overactivity and blocks the release of acetylcholine at the neuromuscular junction), muscle relaxants (such as diazepam, baclofen, and tizanidine to alleviate muscle stiffness and spasms), anticholinergic agents (for dystonic torticollis), and anti-inflammatory medications (such as corticosteroids) to reduce inflammation and pain in musculoskeletal injury.¹¹

Surgical Treatment Options

Surgical interventions present great options for refractory cases with structural deformities – techniques such as sternocleidomastoid lengthening for significant fibrosis, peripheral denervation to sever the nerve supply in the neck muscles to reduce spasms and abnormal postures, deep brain stimulation to modulate neural activity and cervical spinal injury to address spinal abnormalities.¹²  

Rehabilitation and Physiotherapy

Rehabilitation plays a great role in restoring neck mobility, function and posture. Physiotherapy-based interventions focus on stretching tight muscles, strengthening weak muscles and promoting correct posture, such as for the SCM muscle.¹³ Modalities such as ultrasound therapy, electrical stimulation and manual therapy are shown to complement traditional exercises.¹⁴

Occupational Therapy 

Occupational therapy for patients with torticollis is extremely crucial in addressing functional limitations, guiding patients to adjust to their environment and operate with ease in achieving their daily activities. Splinting or bracing equipment provides temporary support and facilitates correct posture for certain cases as well.¹⁵

Psychological and Caregiver Support

Importantly, psychological support is crucial to be provided to both patients as well as caregivers; equipping patients through techniques such as cognitive behavioural therapy helps the patient cope with pain, stress, and social stigma associated with the diagnosis of medical conditions. Support extended to caregivers makes them more equipped and empowered to face physical, institutional and emotional demands associated with care for debilitating diseases.

 Long-term follow-up in torticollis is essential to monitor treatment progress and disease progression, and address treatment strategies and potential complications such as pain, spinal degeneration and recurrence of symptoms.¹⁶

Prognosis and Long-Term Outcomes 

The prognosis of CMT depends on the timing of diagnosis and the nature of intervention. In cases where the condition is diagnosed appropriately, studies have noted a good prognosis. Along with caregiver education, psychological support, and active physical therapy, neurological symptoms of torticollis have resolved, preventing various complications such as motor asymmetry (imbalance of movement or strength across 2 sides of the body, often presenting a preference for one side over the other, reducing range of motion and problems in posture). In cases of diagnosis in paediatric cases within 6 months, studies have shown children to achieve full head and neck mobility, aided with stretching exercises.¹⁷

On the other hand, delayed diagnosis, such as beyond six months, leads to a less favourable prognosis. A study noted that late presentations often accompany conditions such as cervical asymmetry (misalignment of neck and surrounding areas), plagiocephaly (asymmetrical skull shape), scoliosis (abnormal spine curvature), visuospatial impairments and cognitive delays. Untreated skull and facial deformities persist throughout adolescence and require surgical intervention. In some cases where patients do not respond to conservative therapies, surgical interventions have shown promise, especially for patients below 5. However, residual facial asymmetry and restricted neck mobility may persist in older children.¹⁸

Therefore, long-term follow-up is crucial in both paediatric and adult refractory and severe torticollis to ensure adequate craniofacial symmetry and neurodevelopment. If unresolved, patients may carry risks requiring comprehensive care and periodic re-evaluations. 

Summary  

Torticollis is a neurological condition characterised by musculoskeletal abnormalities. A multidisciplinary and comprehensive care for this condition consists of a team of neurologists, physiotherapists, and psychological support to address the various medical and physical demands. Timely and early intervention addresses posture, spinal and neck alignment and enhances motor ability and range, as well as improves neurodevelopmental and psychological function. A variety of treatments, such as pharmacological, physiotherapy intervention and surgical interventions over a periodic time, help address complications, improving quality of life for both patients and caregivers.