Meige Syndrome

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 by Michael T Yen, MD on June 16, 2021.


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Disease Entity

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Disease

Meige syndrome is a syndrome of craniocervical dystonic movements. It involves the combination of blepharospasm in association with oromandibular dystonia and can progress to involve cervical and limb musculature. Meige syndrome was first described in 1887 by neurologist Dr. Horatio Wood, and later named after the French neurologist Dr. Henri Meige who in 1910 published a report of patients experiencing both blepharospasm and involuntary contraction of jaw muscles (1). Of note, this syndrome has also been referred to as “Brueghel Syndrome” however, that term is more often used to describe a condition of a “widely and dystonically opened jaw” (2).

Epidemiology  Prevalence: Rare and difficult to estimate. One crude estimate of segmental dystonia is 59 per million.  Age: Mean age of onset 55.7 years.3  Gender: More common in females than males, ratio of 2:1, possibly explained by specific estrogen receptors having an affect on motor function.


Etiology

Primary Meige Syndrome is considered idiopathic. However, a hereditary component has been described where >10% patients were found to have at least one first or second-degree family member with dystonia (4). Additionally, certain mutations were identified to be rarely associated with craniocervical dystonia such as: DYT1 GAG deletion and THAP1 transcription factor mutation (5).

Secondary Meige Syndrome has been found in both patients suffering from tardive dystonia secondary to neuroleptic medication use as well as those with underlying neurological disorders. This has been described in about 10-20% patients particularly after at least one year of neuroleptic use (6). Other medications that act on central dopaminergic and cholinergic pathways are suggested to have a role in development including: dopamine antagonist metoclopramide, dopamine agonists (levodopa, bromocriptine), SSRIs, and antihistamines. Other rare secondary contributing causes include: head trauma, kernicterus, stroke, demyelination in brainstem, NPH, mass lesions, encephalitis, cerebral hypoxia.

Risk Factors

 Age, female sex  Head trauma, tumor, infection, cerebrovascular event  Essential tremor  Neurological disorders such as Parkinson’s disease and other Lewy Body diseases, Wilson’s disease

Pathophysiology

There are very few studies addressing the pathophysiology of Meige Syndrome and it is not well established. Studies propose the combination of genetic predisposition and an environmental stressor that leads to abnormal sensorimotor integration/processing and hypo-excitability of cortical inhibitory neurons (7). EMG studies looking at activity of masseter and orbicularis oris muscles demonstrated excess duration of muscle activity, and loss of rhythmicity and authors proposed that abnormal basal ganglia function plays a role in this (8).

Additionally, Meige Syndrome secondary to neuroleptic drugs was thought to be explained by denervation supersensitivity that develops as a result of dopamine receptor blockade suggesting dysfunction of basal ganglia plays a role in pathophysiology of this syndrome (6).


Primary prevention

There are currently no preventive measures identified in primary Meige syndrome. In Secondary Meige Syndrome suspected to be caused by medications such as neuroleptics, dopamine agonists, or SSRIs, case reports show that it is not clear whether discontinuing these medications actually consistently reverses the prolonged muscle contraction. Risks and benefits must be carefully weighed before considering discontinuation or lowering the dose (9).

Diagnosis

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History

Many patients first present with progressive blepharospasm and over time develop involvement of oromandibular muscles often occurring in the first five years from initial symptom onset. There is a small chance (~11%) of spontaneous remission of symptoms which usually occurs within the first five years of onset (10). Eventual progression to the involvement of cervical and limb muscles has been noted, and respiratory muscles are affected in rare cases. In up to one fourth of patients, blepharospasm begins unilaterally and thereafter becomes bilateral. “Sensory trick” is a sensory stimulus found to alleviate/reduce the intensity the muscle spasms in Meige Syndrome. The most common of these are talking, singing, and touching the eyebrow and forehead area above the eyes (6).

Physical examination

Consists of gross observation of muscle involvement as well as neural exam to examine for signs of neurological deficits that could be secondary to stroke, mass, movement disorder.

Signs and Symptoms

The most debilitating aspect of Meige syndrome is blepharospasm, which can render the patient functionally blind. It can present in various forms including tonic and clonic. It is most commonly characterized by tonic spasms – in which state the eye is closed for prolonged time. Clonic forms describe a state with many multiple contractions of orbicularis oculi. Additionally, it can present as “apraxia” of eyelid opening.

In addition, the oromandibular component can manifest as repetitive spastic contractions of the lower facial muscles including mouth, jaw, tongue, pharyngeal muscles and platysma (11).

Rarely, patients can present with dyspnea because they have affected respiratory muscles. Meige syndrome can be associated with spinocerebellar ataxia and progressive supranuclear palsy, and patients should be evaluated by a neurology physician with experience in movement disorders (4).


Diagnostic procedures

In Primary Meige Syndrome, diagnostic studies such as imaging and blood work are typically within normal limits but are performed based on history and clinical suspicion to rule out potential secondary causes. Brain imaging such as MRI is often performed to rule out a focal brain lesion. Additionally, based on patient history and physical exam, if there is clinical suspicion for neurodegenerative cause for dystonia such as Wilson’s disease, lab work such as serum ceruloplasmin and copper levels can be performed (4).

Differential diagnosis

 Secondary craniocervical dystonia: structural lesions (vascular, infectious, toxins, medications, autoimmune/inflammatory, metabolic, neoplasmic).  Heredodegenerative diseases with craniocervical dystonia (Wilson’s disease, Parkinson’s disease, Huntington disease).  Psychogenic craniocervical dystonia.


Management

Medical therapy

Oral medications – there are currently no FDA approved systemic medications for Meige syndrome. Over the years many oral medications have been used, however there is not a high level of evidence to demonstrate much improvement. There are patients who had symptom relief from anticholinergics (12) and low dose clonazepam (13), however this has to be carefully weighed with side effect profile of the medications.

Botulinum toxin– considered for patients who do not experience symptom relief or who do not tolerate the above medications. Often considered first line for the ocular symptoms. This is approached by a multi-disciplinary team of an ophthalmologist, ENT and neurologist, targeting the affected muscles in blepharospasm, muscles of spasmodic dysphonia, and additional cervical dystonia respectively (4). It has been observed that botulinum toxin is more effective in blepharospasm treatment than the oromandibular muscular involvement. Additionally, patients with blepharospasm alone have been found to have better response to botulinum toxin. The duration of therapy and frequency varies patient to patient and on average patients receive injections every 3-4 months. One also has to consider the resistance that occurs with long term botulinum toxin use and counsel patients appropriately.

Surgery

Deep brain stimulations – many more recent studies in the area of Meige syndrome management involve DBS therapy involving the basal ganglia nucleus globus pallidus interna in patients with disabling dystonia symptoms and poor response to botulinum toxin therapy (14). Clinically significant benefits of DBS are seen gradually over several months and were observed up to 78 months follow up in some studies (15) This mode of treatment naturally comes with risk and should be considered only if other treatment options have been exhausted. Risks include small risk of stroke, infection, visual field deficit, dysarthria, dysphagia and hypokinetic movement has been described in some patients in muscle groups that were not affected prior to therapy.

Surgical follow up

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Prognosis

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Additional Resources

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References

1. Meige H. Les convulsions de la face: une forme clinique de convulsion faciale bilaterale et mediane. Review of Neurology (Paris). 1910;10:437-443. 2. G.J G. Brueghel syndrome: Its distinction from Meige syndrome. Neurology. 1996;46:1767-1769. 3. O’Riordan SMR, D MS; Lynch, T FRCPI; Saunders-Pullman, R MD, MPH; Bressman, S B. MD; Daly, L PhD; Hutchinson, M FRC. Age at onset as a factor in determining the phenotype of primary torsion dystonia. American Academy of Neurology. 2004;63 (8):1423-1426. 4. LeDoux MS. Meige syndrome: what's in a name? Parkinsonism Relat Disord. 2009;15(7):483-489. 5. Bressman SBMS, C. PhD; Raymond, D. MS; de Leon, D. MS; Klein, C. MD; Kramer, P. L. PhD; Brin, M. F. MD; Fahn, S. MD; Breakefield, X. PhD; Ozelius, L. J. PhD; Risch, N. J. PhD The DYT1 phenotype and guidelines for diagnostic testing. American Academy of Neurology. 2000;54 (9):1746–1753. 6. Pandey S, Sharma S. Meige's syndrome: History, epidemiology, clinical features, pathogenesis and treatment. J Neurol Sci. 2017;372:162-170. 7. Dresel C, Haslinger B, Castrop F, Wohlschlaeger AM, Ceballos-Baumann AO. Silent event-related fMRI reveals deficient motor and enhanced somatosensory activation in orofacial dystonia. Brain. 2006;129(1):36-46. 8. Mascia MM, Valls-Sole J, Marti MJ, Sanz S. Chewing pattern in patients with Meige's syndrome. Mov Disord. 2005;20(1):26-33. 9. Joseph A. Mauriello J, MD., Paul Carbonaro, MD., Shamina Dhillon, MD., Time Leone, MD., Mark Franlkin, B.A. Drug-Associated Facial Dyskinesias—A Study of 238 Patients. Journal of Neuro-Ophthalmology. 1998;18(2):153-157. 10. Anthony Castelbuono M, Neil R. Miller, MD Spontaneous remission in patients with essential blepharospasm and Meige syndrome. American Journal of Ophthalmology. 1998;126:432-435. 11. Tetsuo Ashizawa M, Bernard Patten, MD., Joseph Jankovic., MD. . Meige's Syndrome. Southern Medical Journal. 1980;73(7):863-866. 12. Meige Syndrome: Relief on High-Dose Anticholinergic Therapy. Clinical Neuropharmacology. 1983;6:63-66. 13. Gerhard Ransmayr BK, Rudi A. Dierckx, Werner Poewe, Georg W. Kemmler, and Franz Gerstenbrand. Pharmacological Study in Meige's Syndrome with Predominant Blepharospasm. Clinical Neuropharmacology. 1988;11(1):68-76. 14. Sako W, Morigaki R, Mizobuchi Y, et al. Bilateral pallidal deep brain stimulation in primary Meige syndrome. Parkinsonism Relat Disord. 2011;17(2):123-125. 15. Reese R, Gruber D, Schoenecker T, et al. Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. Mov Disord. 2011;26(4):691-698.

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