What is Meige's Syndrome and Cervical Dystonia?


Meige's Syndrome...


Meige's Syndrome (also known as Cranial Dystonia or Oral Facial Dystonia) and is actually a combination of two forms of dystonia – Eye Dystonia (Blepharospasm) and Mouth, Tongue or Jaw Dystonia (Oromandibular). Meige is named after Henry Meige, the French neurologist who first described the symptoms in detail in 1910. Symptoms usually begin between the ages of 40 and 70 years and appear to be more common in women than men.

To learn more about Henry Meige and Meige's Syndrome click HERE.

I was diagnosed with the Oromandibular Dystonia.

What is dystonia?

Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurologic features. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. Some forms of dystonia are genetic but the cause for the majority of cases is not known.

What are the symptoms?


Dystonia can affect many different parts of the body, and the symptoms are different depending upon the form of dystonia. Early symptoms may include a foot cramp or a tendency for one foot to turn or drag—either sporadically or after running or walking some distance—or a worsening in handwriting after writing several lines. In other instances, the neck may turn or pull involuntarily, especially when the person is tired or under stress. Sometimes both eyes might blink rapidly and uncontrollably; other times, spasms will cause the eyes to close. Symptoms may also include tremor or difficulties speaking. In some cases, dystonia can affect only one specific action, while allowing others to occur unimpeded. For example, a musician may have dystonia when using her hand to play an instrument, but not when using the same hand to type. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable or widespread; sometimes, however, there is little or no progression. Dystonia typically is not associated with problems thinking or understanding, but depression and anxiety may be present.

What do researchers know about dystonia?

The cause of dystonia is not known. Researchers believe that dystonia results from an abnormality in or damage to the basal ganglia or other brain regions that control movement. There may be abnormalities in the brain’s ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. There also may be abnormalities in the way the brain processes information and generates commands to move. In most cases, no abnormalities are visible using magnetic resonance imaging or other diagnostic imaging.


The dystonias can be divided into three groups: idiopathic, genetic, and acquired.
Idiopathic dystonia refers to dystonia that does not have a clear cause. Many instances of dystonia are idiopathic.
There are several genetic causes of dystonia. Some forms appear to be inherited in a dominant manner, which means only one parent who carries the defective gene is needed to pass the disorder to their child. Each child of a parent having the abnormal gene will have a 50 percent chance of carrying the defective gene. It is important to note the symptoms may vary widely in type and severity even among members of the same family. In some instances, persons who inherit the defective gene may not develop dystonia. Having one mutated gene appears to be sufficient to cause the chemical imbalances that may lead to dystonia, but other genetic or even environmental factors may play a role. Knowing the pattern of inheritance can help families understand the risk of passing dystonia along to future generations.
Acquired dystonia, also called secondary dystonia, results from environmental or other damage to the brain, or from exposure to certain types of medications. Some causes of acquired dystonia include birth injury (including hypoxia, a lack of oxygen to the brain, and neonatal brain hemorrhage), certain infections, reactions to certain drugs, heavy metal or carbon monoxide poisoning, trauma, or stroke. Dystonia can be a symptom of other diseases, some of which may be hereditary. Acquired dystonia often plateaus and does not spread to other parts of the body. Dystonia that occurs as a result of medications often ceases if the medications are stopped quickly.

When do symptoms occur?

Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.


Early-onset dystonia often begins with symptoms in the limbs and may progress to involve other regions. Some symptoms tend to occur after periods of exertion and/or fluctuate over the course of the day.


Adult-onset dystonia usually is located in one or adjacent parts of the body, most often involving the neck and/or facial muscles. Acquired dystonia can affect other regions of the body.


Dystonias often progress through various stages. Initially, dystonic movements may be intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonia can be associated with fixed postures and shortening of tendons.
How are the dystonias classified?



One way to classify the dystonias is based upon the regions of the body which they affect:
Generalized dystonia affects most or all of the body.
Focal dystonia is localized to a specific part of the body.
Multifocal dystonia involves two or more unrelated body parts.
Segmental dystonia affects two or more adjacent parts of the body.
Hemidystonia involves the arm and leg on the same side of the body.

There are several different forms of dystonia. Some of the more common focal forms are:

Cervical dystonia, also called spasmodic torticollis or torticollis, is the most common of the focal dystonias. In cervical dystonia, the muscles in the neck that control the position of the head are affected, causing the head to turn to one side or be pulled forward or backward. Sometimes the shoulder is pulled up. Cervical dystonia can occur at any age, although most individuals first experience symptoms in middle age. It often begins slowly and usually reaches a plateau over a few months or years. About 10 percent of those with torticollis may experience a spontaneous remission, but unfortunately the remission may not be lasting.

Blepharospasm, the second most common focal dystonia, is the involuntary, forcible contraction of the muscles controlling eye blinks. The first symptoms may be increased blinking, and usually both eyes are affected. Spasms may cause the eyelids to close completely, causing “functional blindness” even though the eyes are healthy and vision is normal.

Cranio-facial dystonia is a term used to describe dystonia that affects the muscles of the head, face, and neck (such as blepharospasm). The term Meige syndrome is sometimes applied to cranio-facial dystonia accompanied by blepharospasm. Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. This dystonia may cause difficulties with opening and closing the jaw, and speech and swallowing can be affected. Spasmodic dysphonia, also called laryngeal dystonia, involves the muscles that control the vocal cords, resulting in strained or breathy speech.


Task-specific dystonias are focal dystonias that tend to occur only when undertaking a particular repetitive activity. Examples include writer's cramp that affects the muscles of the hand and sometimes the forearm, and only occurs during handwriting. Similar focal dystonias have also been called typist's cramp, pianist's cramp, and musician's cramp.Musician’s dystonia is a term used to classify focal dystonias affecting musicians, specifically their ability to play an instrument or to perform. It can involve the hand in keyboard or string players, the mouth and lips in wind players, or the voice in singers.


In addition, there are forms of dystonia that may have a genetic cause:
DYT1 dystonia is a rare form of dominantly inherited generalized dystonia that can be caused by a mutation in the DYT1 gene. This form of dystonia typically begins in childhood, affects the limbs first, and progresses, often causing significant disability. Because the gene’s effects are so variable, some people who carry a mutation in the DYT1 gene may not develop dystonia.
Dopa-responsive dystonia (DRD), also known as Segawa’s disease, is another form of dystonia that can have a genetic cause. Individuals with DRD typically experience onset during childhood and have progressive difficulty with walking. Symptoms characteristically fluctuate and are worse late in the day and after exercise. Some forms of DRD are due to mutations in the DYT5 gene. Patients with this disorder have dramatic improvements in symptoms after treatment with levodopa, a medication commonly used to treat Parkinson’s disease.


Recently, researchers have identified another genetic cause of dystonia which is due to mutations in the DYT6 gene. Dystonia caused by DYT6 mutations often presents as cranio-facial dystonia, cervical dystonia, or arm dystonia. Rarely, a leg is affected at the onset.


Many other genes that cause dystonic syndromes have been found, and numerous genetic variants are known to date. Some important genetic causes of dystonia include mutations in the following genes: DYT3, which causes dystonia associated with parkinsonism; DYT5 (GTP cyclohydrolase 1), which is associated with dopa-responsive dystonia (Segawa disease); DYT6 (THAP1), associated with several clinical presentations of dystonia; DYT11, which causes dystonia associated with myoclonus (brief contractions of muscles); and DYT12, which causes rapid onset dystonia associated with parkinsonism.


The National Institute of Neurological Disorders and Stroke Website