Meige Disease: Symptoms, Types, Causes and Treatment

Meige disease is a term that can refer to two very different medical conditions, depending on context: one is a rare neurological movement disorder (also known as Meige syndrome), and the other is a hereditary form of primary lymphedema (Meige's disease or lymphedema praecox). This article focuses primarily on the neurological disorder—Meige syndrome—while also clarifying the distinct lymphedema condition. Drawing from clinical studies and up-to-date research, we explore the symptoms, types, causes, and treatment approaches for Meige disease, aiming to provide accessible and accurate information for patients, families, and professionals.

Symptoms of Meige Disease

Meige syndrome presents with a range of neurological symptoms, primarily affecting the muscles of the face, jaw, and sometimes the neck. Understanding these symptoms is crucial for early recognition and management.

Main Symptom	Description	Onset/Age Group	Sources
Blepharospasm	Involuntary eyelid spasms (often bilateral)	Typically 40–70 years	1 3 5 6
Oromandibular Dystonia	Jaw, mouth, tongue involuntary movements	Adults, rarely children	1 3 5 6
Cervical Dystonia	Neck muscle spasms; tremor may occur	Variable	1 2 3 6
Non-motor Symptoms	Depression, neurological abnormalities	Variable	2 6

Table 1: Key Symptoms

Blepharospasm: The Earliest and Most Disabling Symptom

Most patients first notice involuntary, forceful blinking or eyelid closure—termed blepharospasm. This symptom can be so severe that it causes "functional blindness," where patients cannot keep their eyes open even though their vision is intact. Several types of eyelid spasms are observed, including brief, clonic spasms, prolonged dystonic spasms, constant tonic contraction, and even "apraxia" of lid opening—a difficulty initiating eyelid opening despite the absence of paralysis 1 3 6.

Oromandibular Dystonia and Related Facial Symptoms

In the full form of Meige syndrome, abnormal, involuntary movements spread to the lower face, jaw, mouth, and sometimes the tongue or pharyngeal muscles. This can result in grimacing, jaw clenching, tongue thrusting, and difficulty with speech or swallowing 1 3 6. These symptoms often follow blepharospasm, but in some patients, they can appear simultaneously.

Extension to Neck and Other Muscles

In many cases, the dystonia extends beyond the face. Neck muscles may be affected, causing mild spasms or tremor, and in rare cases, the disorder can become more generalized, involving limbs or trunk muscles 1 3 6.

Non-motor and Associated Symptoms

Patients may also experience depression and other neurological symptoms, including signs of basal ganglia dysfunction 2. A family history of movement disorders or essential tremor has been observed in some cases 1 2.

Types of Meige Disease

Meige disease is a term that can cause confusion, as it applies to two unrelated disorders: Meige syndrome (neurological) and Meige's disease (hereditary lymphedema). Here, we clarify these types and their subcategories.

Disease Type	Key Features	Typical Onset	Sources
Meige Syndrome	Cranial (facial) dystonia, blepharospasm, OMD	Adults (40–70 years)	1 3 5 6
Primary (Idiopathic)	No identifiable cause	Adults	3 5 6
Secondary	Due to drugs, brain lesions, Parkinsonism	Variable	3 6
Meige’s Lymphedema	Hereditary limb swelling (lymphedema)	Adolescents/Teens	7 9

Table 2: Types of Meige Disease

Meige Syndrome: Neurological Segmental Dystonia

This is the most common context for "Meige disease" in neurology. It is characterized by a combination of blepharospasm and oromandibular dystonia, sometimes extending to cervical muscles ("segmental cranial dystonia") 1 3 5 6. Subtypes include:

• Primary (Idiopathic) Meige Syndrome: Most cases are idiopathic, meaning no clear cause is found 3 5 6.
• Secondary Meige Syndrome: Rarely, the syndrome arises after chronic use of neuroleptics (antipsychotics), brain lesions, or in association with Parkinson’s disease or essential tremor 3 6.

Meige’s Disease (Hereditary Lymphedema)

Distinct from the neurological disorder, Meige disease or "hereditary lymphedema praecox" is an inherited condition causing painless swelling of the limbs, usually starting in the first or second decade of life. It may be accompanied by other anomalies such as double eyelashes (distichiasis), vertebral abnormalities, or hearing loss 7 9. This form follows an autosomal dominant inheritance pattern.

Causes of Meige Disease

Understanding the causes of Meige disease is essential but challenging, as both genetic and acquired factors play roles, and much remains unknown.

Cause Type	Description	Evidence Level	Sources
Idiopathic	No known cause; most common	Strong clinical basis	3 5 6
Genetic Factors	Family history in some cases; no definitive genes	Inconclusive	1 2 5 10
Drug-induced	Neuroleptics, levodopa, other drugs	Well documented	3 6
Brain Lesions	Focal lesions affecting basal ganglia or brainstem	Case reports	3 6 8 11
Other Disorders	Essential tremor, Parkinson’s, atypical parkinsonism	Observational links	3 5 6
Lymphedema Genes	FOXC2, SOX18 mutations (Meige’s lymphedema only)	Strong for lymphedema	7 9

Table 3: Causes of Meige Disease

Idiopathic (Primary) Cases Dominate

Most people with Meige syndrome have no identifiable cause—hence, they are classified as idiopathic or primary cases. Despite extensive investigation, clear environmental or genetic triggers are lacking 3 5 6.

Genetic and Familial Factors

There is evidence of familial clustering and rare reports of genetic variants in some families. However, no single gene has been proven responsible for Meige syndrome. Some studies have identified potentially damaging variants in genes like TOR1A, TOR2A, GNAL, THAP1, and REEP4, but their causal role remains uncertain 1 2 5 10. In Meige’s lymphedema, mutations in FOXC2 and SOX18 are implicated, but these do not apply to the neurological form 7 9.

Drug-induced and Secondary Causes

Prolonged use of neuroleptics (antipsychotics), levodopa, or other drugs has been linked to secondary forms of Meige syndrome. Similarly, focal brain lesions or neurodegenerative diseases such as Parkinson’s can trigger similar symptoms 3 6 8.

Pathophysiology: Basal Ganglia and Brainstem Dysfunction

Research suggests that dysfunction in the basal ganglia-thalamocortical motor circuits and possibly the brainstem underlies the abnormal muscle contractions. Brain imaging has shown metabolic abnormalities in the globus pallidus, thalamus, and cerebellum, which may explain why deep brain stimulation is effective in some cases 4 8 11.

Treatment of Meige Disease

While there is no cure for Meige syndrome, several treatments can significantly reduce symptoms and improve quality of life. Treatment approaches vary depending on the severity and type of Meige disease.

Treatment	Effectiveness	Indications	Sources
Botulinum Toxin A	Highly effective for focal symptoms	Blepharospasm, OMD	3 5 6
Oral Medications	Variable; some benefit in subsets	Dystonia, tremor	1 4
Deep Brain Stimulation (DBS)	Highly effective, especially long-term	Severe, refractory cases	12 13 14 15
Physical Therapy	Supportive; improves function	Adjunctive	6
Lymphedema Management	Compression, skincare, surgery	Meige’s lymphedema	7 9

Table 4: Main Treatments

Botulinum Toxin Injections: First-Line Therapy

Botulinum toxin type A (Botox) injections directly into affected muscles are the standard of care for most patients with Meige syndrome. This approach can substantially reduce eyelid and jaw spasms, often for several months at a time, and is considered safe and effective 3 5 6.

Medications: Variable Response

Various oral medications—including tetrabenazine, lithium, trihexyphenidyl, and clonazepam—have been used with mixed results. While some patients experience marked improvement, others see little benefit, and side effects can limit use 1 4. Drugs targeting dopamine and cholinergic systems have shown promise in some studies, but overall effectiveness remains inconsistent.

Deep Brain Stimulation: For Severe or Refractory Cases

For patients who do not respond to injections or medications, deep brain stimulation (DBS) has become an important option. Electrodes are implanted in specific brain regions such as the globus pallidus internus (GPi) or subthalamic nucleus (STN), modulating abnormal brain activity.

• Long-term studies show sustained symptom improvement (up to 6 years), with significant gains in quality of life 12 13 14 15.
• Both GPi and STN are effective targets for DBS, and higher preoperative symptom scores tend to predict greater improvement 12 13 14 15.
• Side effects are generally mild and reversible, underscoring the safety of the procedure in experienced hands.

Supportive and Adjunctive Therapies

Physical and speech therapy can help patients adapt and optimize their function, particularly with speech, swallowing, and fine motor tasks 6.

Management of Meige’s Lymphedema

For hereditary lymphedema (Meige’s disease), treatment centers on lifelong limb care, including compression therapy, skincare, and, in selected cases, surgical intervention. Genetic counseling may be appropriate for affected families 7 9.

Conclusion

Meige disease encompasses both Meige syndrome, a disabling neurological dystonia, and a rare hereditary lymphedema. While much remains unknown, advances in diagnosis and management are improving the lives of those affected.

Key takeaways:

• Meige syndrome is a segmental cranial dystonia, most often presenting with blepharospasm and oromandibular dystonia in adults 1 3 5 6.
• Symptoms can extend to the neck and may include non-motor features such as depression 1 2 3 6.
• Most cases are idiopathic, but familial clustering and secondary causes (drugs, brain lesions) exist 3 5 6 10.
• Botulinum toxin injections are the mainstay of treatment; oral medications have variable success 3 5 6 1 4.
• Deep brain stimulation offers substantial, durable symptom relief for refractory cases 12 13 14 15.
• Meige’s lymphedema is a separate inherited disorder requiring different management 7 9.

By recognizing the symptoms and understanding available treatments, patients and clinicians can work together to optimize outcomes in this challenging condition.