Introduction 

Do you know that a wry neck can easily be misdiagnosed?

Torticollis (wry neck) is the abnormal, involuntary contractions of neck muscles leading to asymmetrical head tilting and neck twisting, either congenital or secondary, and originates from a variety of underlying conditions.¹ This can range from muscular torticollis to neurological torticollis such as cervical spinal or peripheral nerve injury, or even more severe neurological conditions, such as basal ganglia or brainstem lesions, stroke, or tumours. Identifying a differential diagnosis of torticollis can be a great challenge to healthcare professionals. Given the importance of prompt, targeted, and effective treatment, a clear distinction between these etiologies is crucial. We will delve into the muscular and neurological differential diagnosis of torticollis based on their clinical features, diagnostic strategies, and treatment options to equip the general public with basic knowledge for accurate diagnosis among healthcare professionals. 

Muscular causes 

Congenital muscular torticollis 

Congenital muscular torticollis (CMT) is a common differential diagnosis for torticollis among infants and young children, resulting from the sternocleidomastoid muscle (SCM) shortening and tighting due to in-utero positioning, birth trauma, abnormal SCM development, or birth defects such as Klippel-Feil syndrome (KFS). This presents clinically as the head tilting to one side with the chin away, limited head and neck movement, and small lumping on neck muscles. It is primarily diagnosed with clinical and physical examinations, and occasionally X-ray or ultrasound imaging to rule out cervical spinal abnormalities or neuromuscular disorders.^1,2 The lack of associated neurological symptoms, such as head drop or muscle weakness, could facilitate the differentiation from neurological torticollis.

Acquired muscular torticollis 

Acquired muscular torticollis is the neck muscle spasms, stiffness or fibrosis that occurs when strained, traumatised, or overused by poor posture, repetitive use, trauma, neoplasm or drug-induced dystonic syndrome.³ It typically presents as unilateral neck pain, muscle tenderness, and restricted range of motion (ROM) when tilting the head or rotating the chin. Triggers are usually identified through medical history review and physical examination, with occasional use of imaging techniques to look for structural abnormalities or exclude trauma. 

Atlantoaxial subluxation 

Atlantoaxial subluxation is the misalignment of the 1st cervical vertebra relative to the 2nd, and can be caused by ligament laxity, trauma, or inflammation at the atlantoaxial joint. It can present with similar symptoms as torticollis. Grisel’s syndrome is the most prominent example, where joints are misaligned after upper respiratory tract infections or surgical inflammation. It typically presents with acute neck pain, stiffness, occipital headache (neuralgia), limited ROM, and head tilting. Diagnosis is done through radiographs (X-rays and CT scans) or MRI scans in evaluating cervical ligament integrity for joint instability or misalignment.⁴ The neck pain and stiffness, however, worsen in particular with movement or palpitation, unlike the severe, persistent pain irrespective of postures in typical muscular torticollis.   

Neurological causes 

Cervical dystonia 

Cervical dystonia (spasmodic torticollis) is the involuntary neck muscle contractions leading to abnormal head tilting, twisting, or jerky movements, mimicking torticollis. With its neurological origin of abnormal basal ganglia activities, either idiopathic, drug-induced, or genetic, cervical dystonia can manifest as sustained abnormal posture (tonic dystonia) or intermittent spasms (clonic dystonia).⁵ It is also often associated with chronic, progressive, burning neck pain or even headache, typically diagnosed by medical history review, clinical assessments of exclusion, and occasionally EMG. Torticollis, in comparison, is a fixed head tilting without tremors or jerky movements, which can be painless depending on its underlying cause, whether acute or chronic. 

Basal ganglia disorders 

Parkinson’s disease 

Parkinson’s disease (PD) can sometimes resemble torticollis due to its similar presentation of fixed neck dystonia and difficulty in neck rotation. Abnormal neck postures in PD result from rigidity and bradykinesia (slowed movements) due to underlying age-related basal ganglia dopaminergic neuron degeneration. It is usually bilateral, combined with other progressive motor dysfunctions like tremors, unstable posture, or walking gait, and may even progress to involuntary drooling, dysphagia (trouble swallowing), and hypomimia (mask-like facial expressions) over time. Rather than the isolated involuntary neck muscle contractions arising from muscular or structural issues in torticollis, recognising the hallmark features of PD, in addition to positive treatment outcomes to dopamine agonists, can effectively help to distinguish it from the more localised torticollis, which lack systemic motor involvement. 

Wilson’s disease 

Wilson’s disease can present as torticollis-like abnormal neck postures due to excessive copper accumulation in the brain. However, unlike isolated neck stiffness and twisting in torticollis, Wilson’s disease has a systemic origin that affects the liver and basal ganglia. It is typically manifested with a wide range of symptoms, such as tremors, trouble with speech, swallowing, physical coordination, mood changes, and abdominal pain. Hallmark findings of Kayser-Fleischer rings (copper accumulation in the cornea of the eyes) are detectable through slit-lamp exam, as well as elevated serum copper and low serum ceruloplasmin levels from laboratory tests. With the typical progressive and evolving neurological symptoms in Wilson’s disease, a timely diagnosis is essential through genetic tests and liver function tests, as well as MR brain imaging, in order to discriminate it from isolated torticollis.     

Multiple system atrophy   

Multiple system atrophy (MSA) can present with neck dystonia that resembles torticollis. However, being a neurodegenerative disorder that affects the basal ganglia, brainstem, and cerebellum, it typically demonstrates a variety of symptoms such as parkinsonism, autonomic dysfunctions (e.g., orthostatic hypotension, urinary and faecal incontinence, decreased sweating, and sleep apnea), mood changes, and cerebellar ataxic motor impairments like intention tremor, overall clumsiness, and nystagmus (uncontrollable eye movements). While neck posture in MSA is often part of generalised dystonia or rigidity, its accompanying motor and autonomic abnormalities, in addition to the brainstem or cerebellar signs upon clinical assessment, neurological examinations, or brain MRI (hot cross bun sign) could help physicians discern it from the localised and isolated muscular or neurological torticollis.⁶

Stroke or cerebrovascular accident (CVA)  

Stroke or cerebrovascular accident (CVA), due to ischaemia or haemorrhage affecting deep subcortical motor control structures, such as basal ganglia, brainstem, thalamus, or cerebellum, can sometimes be confused with torticollis because of sudden, involuntary head tilting and neck twisting.^7,8 However, its accompanying sudden-onset neurological impairments such as hemiparesis, facial weakness, or visual disturbances, could significantly help to differentiate from isolated torticollis. Brainstem and cerebellar stroke could further hinder cranial nerve functions, leading to dysarthria and dysphagia.^9,10.11 CT or MR imaging could help identify the location and extent of the stroke incident. 

Intracranial lesions 

Intracranial lesions, such as tumours or abscesses, can cause involuntary head and neck twisting, similar to primary torticollis when compressing or irritating motor pathways among the brainstem, basal ganglia, or cervical spinal cord.^12,13 Dissimilar to torticollis, intracranial lesions often present with slow-evolving symptoms, such as headache, nausea and vomiting, focal impairments (e.g., seizures, weakness, and numbness), and altered cognition. Alternatively, abscesses can lead to fever or infection spread that further differentiates it from primary torticollis. With CT or MR imaging, the location, size, and nature of the lesions can be identified to separate from muscular or neurological torticollis.

Cervical spinal cord disorders 

Cervical spinal cord disorders or compression (e.g., herniated discs or tumours), can share symptoms with torticollis due to structural abnormalities and associated motor dysfunction. Syringomyelia refers to a fluid-filled cyst in the spinal cord, while chiari malformation is the herniation of the brainstem and cerebellum, typically presenting progressive neurological symptoms, such as weakness, sensory loss, or paresthesia in the limbs. Diversely, it presents with the hallmark localised pain and myelopathic presentations upon cervical spinal compression. MRI scanning is the key to confirming structural lesions and discriminating them from torticollis that lack widespread neurological impairments. 

Peripheral nerve lesions  

Peripheral nerve lesions, such as brachial plexopathy or spinal accessory nerve (SAN) injury, can share symptoms with primary torticollis due to difficulty in neck rotation; however, it presents with the presence of localised weakness, paralysis and atrophy of the affected muscles, instead of muscle stiffness and spasm. While brachial plexopathy often shows up as pain, weakness, and sensory issues to the shoulder and upper limbs; SAN injury may manifest as neck pain, weakness, and asymmetrical shoulder dropping that limits head turning. Clear muscular impairments, diagnosed via EMG or MRI scans, could differentiate them from torticollis.  

Treatment approaches

The neck stiffness, pain, and abnormal postures among muscular or neurological torticollis-like differential diagnoses are primarily based on addressing and managing the underlying causes. 

Physical therapy

Physical therapy is helpful for torticollis-like muscular and neurological conditions in terms of offering postural correction, strengthening, stretching, and ROM exercises. It may also involve massage, heat/cold therapy, and transcutaneous electrical nerve stimulation (TENS) to relieve stiffness and pain, as well as improve neck flexibility and mobility, particularly among non-progressive or postural cases.   

Medications

Drugs such as muscle relaxants or analgesics are helpful for torticollis-like neurological or muscular conditions in pain and stiffness relief. Anticholinergic drugs, benzodiazepines, or dopaminergic agents could facilitate spasm reduction, improved muscle tone, and movement control. 

Botulinum toxin injections

Botulinum toxin (botox) injections are effective in addressing either refractory muscle spasms and severe stiffness-led contractures, or improving neck mobility and relieving dystonic involuntary movements among cervical dystonia or other dystonic disorders, especially stroke, intracranial lesions, and conditions affecting the central nervous system (CNS) and basal ganglia. 

Surgical interventions 

In rare, severe cases, surgeries such as muscle release for severe muscular torticollis, and deep brain stimulation for intractable cervical dystonia or degenerative basal ganglia disorders can help to alleviate symptoms, correct posture and maximise functionality.  

Summary 

In this article, we have investigated the various conditions that can induce torticollis-like neck stiffness and abnormal postures, ranging from more benign congenital or acquired muscular torticollis, to debilitating degenerative basal ganglia disorders and life-threatening, motor pathway-compressing stroke or intracranial lesions. By having a comprehensive understanding of the various potential causes of torticollis-like symptoms, differentiation between conditions can be made more clearly for a timely, accurate diagnosis and targeted treatment and management. This facilitates early intervention to maximise functionality and quality of life, preventing further complications.