Rare Neurology News

Disease Profile

Meige syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Elderly

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ICD-10

G24.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Meige's syndrome; Oral facial dystonia; Brueghel syndrome;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary.[1][2] The exact cause of Meige syndrome is unknown, but researchers suspect that it is due to a combination of genetic and environmental factors. Treatment focuses on each person's symptoms and may include drug therapy and/or botulinum A toxin (Botox) injections.[1] Other treatment options, such as deep brain stimulation, are currently being considered.

Symptoms

The specific symptoms, severity and progression of Meige syndrome can vary from person to person. It most often affects middle-aged people and usually is characterized by a combination of blepharospasm and oromandibular dystonia.[1]

Blepharospasm is characterized by abnormal, forced blinking and spasms of the eyelids. Eye irritation often occurs in response to various stimuli such as bright lights, wind or fatigue. As the frequency of muscle spasms and contractions increases, it may become progressively harder for affected people to keep their eyes open.[1]

Oromandibular dystonia is characterized by involuntary and often forceful contractions of the jaw and tongue, which can make it hard to open or close the mouth. Some people may have clenching of the teeth, displacement of the jaw, grimacing, chin thrusting, or repeated pursing of the lips. Eyelid and facial muscle tone may gradually decline.[1]

People with Meige syndrome may also have spasms of the tongue and throat, which can result in the tongue protruding from the mouth and difficulty swallowing. In some cases, muscles in the neck, arms, legs or other areas of the body may become affected.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Meige syndrome. Click on the link to view a sample search on this topic.

        References

        1. Meige syndrome. NORD. April 14, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/235/viewAbstract.
        2. Lyons MK, Birch BD, Hillman RA, Boucher OK, and Evidente VG. Long-term follow-up of deep brain stimulation for Meige syndrome. Neurosurg Focus. August, 2010; 29(2):E5. https://www.ncbi.nlm.nih.gov/pubmed/20672922.
        3. Møller E, Werdelin LM, Bakke M, Dalager T, Prytz S, Regeur L. Treatment of perioral dystonia with botulinum toxin in 4 cases of Meige's syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. November, 2003; 96(5):544-549.
        4. Reese R, Gruber D, Schoenecker T, Bäzner H, Blahak C, Capelle HH, Falk D, Herzog J, Pinsker MO, Schneider GH, Schrader C, Deuschl G, Mehdorn HM, Kupsch A, Volkmann J, and Krauss JK. Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. Mov Disord. March, 2011; 26(4):691-698. https://www.ncbi.nlm.nih.gov/pubmed/21312284.
        5. Mark S. Ledoux. Meige's Syndrome. Benign Essential Blepharospasm Research Foundation (BEBRF). December, 2008; https://www.blepharospasm.org/meiges-syndrome2.html. Accessed 2/18/2015.
        6. Kamitsukasa I, Yamada T, Tokumaru Y, Hirayama K. [Clinical features and factors related to the functional prognosis in Meige's syndrome]. Rinsho Shinkeigaku. March, 1995; 35(3):231-236.
        7. Czyz CN, Burns JA, Petrie TP, Watkins JR, Cahill KV, Foster JA. Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. Am J Ophthalmol. July, 2013; 156(1):173-177. https://www.ncbi.nlm.nih.gov/pubmed/23541393.

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