What is Meige syndrome in a middle-aged man with facial myokymia and potential neurological symptoms?

What is Meige Syndrome?

Meige syndrome is a form of cranial dystonia characterized by bilateral blepharospasm (involuntary eyelid spasms) combined with oromandibular dystonia (involuntary movements of the jaw, mouth, and lower facial muscles). 1, 2

Clinical Features

Core Manifestations

• Blepharospasm is typically the initial and most disabling feature, often rendering patients functionally blind due to involuntary closure of both eyelids 1, 2
• Oromandibular dystonia develops subsequently, involving involuntary movements of the jaw muscles, tongue, pharyngeal muscles, and lower facial structures 2, 3
• The syndrome progresses from isolated blepharospasm to involve other cranial and extra-cranial muscles over time 2

Types of Eyelid Spasms

The orbicularis oculi spasms in Meige syndrome manifest in several patterns 1:

• Brief clonic spasms (rapid, repetitive contractions)
• Prolonged dystonic spasms (sustained contractions)
• Constant tonic contraction (persistent muscle tension)
• "Apraxia" of lid opening (inability to voluntarily open eyelids despite lack of spasm)

Associated Features

• Neck muscle spasms (cervical dystonia) occur in approximately 60% of patients, though typically mild 4
• Action tremor commonly accompanies the cranial dystonia 1
• Limb dystonia may develop but is generally mild 1
• Spasmodic dysphonia can be part of the complete syndrome in some patients 4

Epidemiology and Demographics

• Mean age at onset is approximately 51-52 years, with 81% of patients presenting between ages 40-70 4
• Women are affected more frequently than men in a 3:2 ratio 4
• Blepharospasm is the initial symptom in 58% of patients, but only 23% remain with isolated orbicularis oculi involvement 4

Etiology and Classification

Primary (Idiopathic) Form

• In the majority of patients, Meige syndrome is primary or idiopathic, where no underlying cause is identified 1, 2
• This form is considered an adult-onset variant of focal dystonia 1
• A small proportion have a family history, suggesting genetic factors in some cases 3, 4

Secondary Forms

Secondary Meige syndrome can occur in several contexts 1, 2:

• Chronic administration of neuroleptics (drug-induced dystonia)
• Prolonged levodopa use in Parkinson's disease patients
• Underlying neurodegenerative disorders including Parkinson's disease and atypical parkinsonism
• Focal brain lesions affecting basal ganglia or mesencephalic/diencephalic regions
• Essential tremor has a high correlation with Meige syndrome 4

Pathophysiology

• Dysfunction of the basal ganglia or mesencephalic/diencephalic region plays an important role in the pathophysiology 1
• Disease of the brainstem contributes to orofacial dystonia, supported by neurophysiologic studies and postmortem findings 1
• Abnormal plasticity and impaired inhibition characterize the neurophysiological features, similar to other focal dystonias 2
• The hypothesis suggesting dopaminergic and cholinergic hyperactivity is most widely accepted 5

Diagnostic Considerations

• Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and frequently resulting in misdiagnosis 3
• The diagnosis is primarily clinical, based on recognition of the characteristic bilateral blepharospasm combined with oromandibular dystonia 2, 3
• No causative genes have been identified to date despite familial cases 3

Alternative Nomenclature

Different eponyms describe this entity with anatomical variations 2:

• "Breughel syndrome"
• "Wood syndrome"
• "Blepharospasm plus"
• "Segmental cranial dystonia"
• "Segmental cranio-cervical dystonia"

Treatment Approaches

First-Line Therapy

• Botulinum toxin A injection is the most effective treatment, successfully managing symptoms in most patients 2, 3

Pharmacological Options

• Tetrabenazine, lithium, and trihexyphenidyl are most useful for oromandibular dystonia 4
• Clonazepam can be beneficial for blepharospasm in some patients 4
• Response to medication is inconsistent, but 69% of patient trials result in some improvement, with 22% achieving marked and persistent benefit 4

Alternative Therapy

• Deep brain stimulation has emerged as a viable treatment option for intractable patients who fail conservative management 2, 3

Important Clinical Pitfall

Do not confuse Meige syndrome with facial myokymia, which presents as fine, rippling muscle contractions rather than dystonic spasms. Facial myokymia typically indicates brainstem pathology (such as multiple sclerosis or brainstem glioma) and requires different diagnostic evaluation and management. 1, 2