What is the diagnosis and treatment for ptosis with blepharospasm and retrocollis, which form of dystonia is it?

Meige Syndrome (Segmental Craniocervical Dystonia)

The combination of ptosis with blepharospasm and retrocollis represents Meige syndrome, a form of segmental craniocervical dystonia that requires botulinum toxin injections as first-line treatment, with careful attention to pretarsal orbicularis oculi muscles for apraxia of eyelid opening. 1, 2

Clinical Diagnosis

Defining Features

• Blepharospasm (involuntary spasms of orbicularis oculi muscles) combined with cervical dystonia (retrocollis in this case) defines segmental craniocervical dystonia, commonly called Meige syndrome 1, 3
• The ptosis component typically represents apraxia of eyelid opening rather than true ptosis—this is inability to voluntarily open the eyelids despite absence of levator weakness 1, 2
• Blepharospasm is usually the first affected site, followed by spread to cervical muscles 1
• The dystonia characteristically remains confined to the craniocervical region without spread to limbs 1

Critical Examination Points

• Distinguish apraxia of eyelid opening from true ptosis by observing involuntary orbicularis oculi contraction preventing lid elevation 2
• Assess for other craniocervical involvement: laryngeal dystonia, lower facial dystonia 1
• Document cervical dystonia pattern: retrocollis (backward head tilt), anterocollis, laterocollis, or torticollis 1
• Evaluate for sensory tricks (geste antagoniste) that temporarily relieve symptoms 3

Treatment Algorithm

First-Line: Botulinum Toxin Type A

• Botulinum toxin A injections remain the definitive first-line therapy for both blepharospasm and cervical dystonia components 4, 2
• Initial dosing for blepharospasm: mean effective dose approximately 39 units onabotulinumtoxinA or 199 units abobotulinumtoxinA 2
• Critical technique for apraxia of eyelid opening: pretarsal injections into orbicularis oculi muscles are essential and required in over 25% of treatment sessions 2
• Expect dose escalation during first few years, then stabilization with continued treatment 2
• Treatment duration typically 12-16 weeks between sessions 4

Managing the Blepharospasm Component

• Standard periocular injections target upper and lower orbicularis oculi muscles 4
• For refractory cases with apraxia of eyelid opening: consider myectomy combined with substantial botulinum toxin doses to pretarsal muscles 1
• Most common adverse effects: transient ptosis (4-5%), epiphora or dry eye (4-5%), diplopia (1%), facial asymmetry (1%) 2
• These side effects are mild, transient, and well-tolerated 4

Managing the Cervical Dystonia Component

• Inject affected cervical muscles based on dystonia pattern (splenius capitis and semispinalis for retrocollis) 1
• For severe, medication-refractory anterocollis or retrocollis: deep brain stimulation can provide marked improvement 1

Long-Term Considerations

Efficacy and Safety Profile

• 87.7% of patients achieve satisfactory functional and aesthetic recovery with long-term botulinum toxin treatment 4
• Treatment remains safe and effective over observation periods up to 29 years 2
• Neutralizing antibody development is rare (less than 1% of patients) 2
• Patient satisfaction remains high: 55.4% report clear improvement without adverse events 4

Adjunctive Therapies

• Oral medications provide only symptomatic relief and are not curative 5
• Emerging option: low-frequency repetitive transcranial magnetic stimulation (rTMS) over anterior cingulate cortex for blepharospasm may produce lasting improvement when combined with current therapies 5

Common Pitfalls

• Failing to use pretarsal injections for apraxia of eyelid opening leads to suboptimal response 2
• Misdiagnosing apraxia of eyelid opening as myasthenia gravis or third nerve palsy—the key distinction is involuntary orbicularis contraction rather than levator weakness 1
• Undertreating due to fear of ptosis—transient ptosis occurs in only 4-5% and resolves spontaneously 2
• This subphenotype (blepharospasm with apraxia of eyelid opening and cervical dystonia) is therapeutically challenging and often requires higher doses than isolated blepharospasm 1