Disorder Definitions

Dystonia is characterized by excessive pulling of muscles leading to twisting movements or abnormal postures. Patients with dystonia can have virtually any part of their bodies affected. Patients can be grouped according to which part of the body is affected. Most patients fall into the group of focal dystonias, where a single part of the body is affected. Some have segmental dystonia, where two or more regions next to each other in the body are affected. A few have generalized dystonia, in which many body regions are affected.

  • Blepharospasm/Craniofacial Dystonia
  • Cervical Dystonia
  • Generalized Dystonia
  • Limb Dystonia
  • Meige Syndrome
  • Spasmodic Dysphonia
  • Other Dystonias

What is blepharospasm/craniofacial dystonia?

Blepharospasm is characterized by excessive eye blinking, with occasional spasms of the muscles around the eyes. Blinking and spasms can be worsened by a number of things, such as bright lights, reading, or stress. In some cases, muscles around the mouth become affected too, with lip puckering, grimacing, or other lip movements.  When both the eyes and mouth are affected, the diagnosis is craniofacial dystonia, sometimes called Meige syndrome.  A related but relatively uncommon promblem is oromandibular dystonia, when only the lower face, jaw, and tongue are involved.

Who gets blepharospasm/craniofacial dystonia?

People of all ages and all races all over the world get blepharospasm and craniofacial dystonia. It most commonly begins in middle age, between 40-65 years old. In rare cases, it may begin in children or older adults. People of both sexes are affected, but it is more common in women.

What causes blepharospasm/craniofacial dystonia?

In most cases, the cause of blepharospasm and craniofacial dystonia is unknown.

How is blepharospasm/craniofacial dystonia diagnosed?

The diagnosis of blepharospasm and craniofacial dystonia depends on recognition of its characteristic features by an expert, such as a neurologist or ophthalmologist. There are no medical tests for proving the diagnosis, but some tests may be conducted to rule out other possible problems. These may include tests for allergies or dry eyes or scans of the brain.

Are there treatments for blepharospasm/craniofacial dystonia?

The most useful treatments for blepharospasm and craniofacial dystonia involve quieting the overactive muscles by injecting them with a muscle relaxer. The most commonly used medications are the botulinum toxins. Some patients also take pills.

Why did I get blepharospasm/craniofacial dystonia?

The reasons why some people get blepharospasm and craniofacial dystonia are unknown. In some cases, it may be inherited through a change in genes. In some others, it may be caused by something that happened to the brain, like exposure to some infection, chemical, or injury. Experts believe most cases come from a combination of inheritance and some exposure.

Will my blepharospasm/craniofacial dystonia get worse?

Blepharospasm and craniofacial dystonia usually reaches its worst level of severity over a period of weeks or months. It may continue to worsen over several years, or it may spread to the lower portion of the face. In rare cases, it may also spread to other portions of the body, such as the neck.

Will my blepharospasm/craniofacial dystonia ever go away?

In a few fortunate people, the problem may go away. When it does go away, there always is the risk that it may come back.

Can an allergy cause blepharospasm/craniofacial dystonia?

Many people with blepharospasm or craniofacial dystonia are incorrectly diagnosed as having allergic reactions affecting the eyes, or dry eye syndromes. While allergies and dry eyes may make the problem worse, they are not believed to be the primary cause.

What is cervical dystonia?

Cervical dystonia is characterized by excessive pulling of the muscles of the neck and shoulder. The excessive pulling causes the head to turn or tilt involuntarily. Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur. Often, the turning and tilting movements are accompanied by jerky or wobbly movements known as tremor. Also common is soreness of the muscles of the neck and shoulders.

Who gets cervical dystonia?

People of all ages and all races all over the world get cervical dystonia. It most commonly begins in middle age, between 30-60 years old. Less commonly, it may begin in children or older adults. People of both sexes get cervical dystonia, but it is more common in women.

What causes cervical dystonia?

In most cases, the cause of cervical dystonia is unknown.

How is cervical dystonia diagnosed?

The diagnosis of cervical dystonia depends on recognition of its characteristic features by an expert, such as a neurologist. There are no medical tests for proving the diagnosis, but several tests may be conducted to rule out other possible problems. These tests may include blood tests or scans of the head or neck.

Are there treatments for cervical dystonia?

The most useful treatments for cervical dystonia involve quieting the overactive muscles by injecting them with a muscle relaxer. The most commonly used medications are the botulinum toxins. Some patients take pills, and others go for surgery.

Why did I get cervical dystonia?

The reasons why some people get cervical dystonia are unknown. In some cases, it may be inherited through a change in the genes. In others, it may be caused by something that happened to the brain, like exposure to some infection, chemical, or injury. Experts believe that most cases come from a combination of inheritance and some exposure.

Will my cervical dystonia get worse?

Cervical dystonia usually reaches its worst level of severity over a period of weeks or months, sometimes a year. Then the condition becomes stable. In a minority of cases, it may worsen over several years or spread to another region of the body.

Will my cervical dystonia ever go away?

In a few fortunate people, cervical dystonia may go away. When it does go away, there always is the risk that it may come back.

Was my cervical dystonia caused by an injury to my head or neck?

Most people with injuries to the head or neck do not develop cervical dystonia. People with cervical dystonia are no more likely to have such injuries than those without cervical dystonia. Though cervical dystonia may develop after some trauma, it is not possible to know for sure if the trauma caused the problem.

What is generalized dystonia?

Dystonia is a condition in which muscles contract by themselves, and they often contract too much. When dystonia affects a limited region of the body, it is called focal dystonia. Examples include cervical dystonia (neck), blepharospasm (eyes), spasmodic dysphonia (voice), and limb dystonia (arm or leg). In some people, dystonia may occur in more than one region. When dystonia affects broad regions of the body, it is known as generalized dystonia.

Who gets generalized dystonia?

Generalized dystonia occurs in both males and females of all ages and in all races all over the world. Generalized dystonia occurs more commonly in children than adults.

What causes generalized dystonia?

Generalized dystonia has many different causes. Some people inherit a gene that causes dystonia. Others may develop generalized dystonia because of something that happened to the brain, like exposure to birth injury, infection, or chemical.

How is generalized dystonia diagnosed?

The diagnosis of generalized dystonia depends on recognition of its characteristic features by an expert, such as a neurologist or developmentalist. A cause can sometimes be confirmed by a brain scan, blood tests, or other special tests.

Are there treatments for generalized dystonia?

Generalized dystonia usually is treated with medications. Some patients also receive injections of muscle relaxers known as botulinum toxins into the most troublesome muscles. A few patients go for brain surgery.

Why did I get generalized dystonia?

In some cases, generalized dystonia may be inherited through a change in the genes. In others, it may be caused by something that happened to the brain such as a birth injury, infection of the brain, or exposure to a chemical.

Will my generalized dystonia get worse?

Generalized dystonia often begins in one region of the body, and then spreads slowly to other regions. This spread may occur over months or years. How far it spreads and how fast are difficult to predict, and each affected person seems to be different.

Will my generalized dystonia ever go away?

In a few fortunate people, generalized dystonia may go away with appropriate treatments. When it does go away, there always is the risk that it may come back.

What are limb dystonias?

The limb dystonias are characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg may also be involved. The manifestations depend on the combinations of muscles affected, and how hard each one is pulling. In its mildest forms, it can be expressed only as stiffness or soreness of a limb. In moderate forms, it is characterized by unwanted movements or postures of the limb. In its most severe forms, abnormal postures may become fixed. Some common examples include writer’s cramp causing difficulty writing or arm soreness with writing, musician’s dystonia that interferes with playing a musical instrument, or dystonia of one foot that makes walking awkward.

Who gets limb dystonias?

People of all ages and both sexes and all races all over the world get limb dystonias. It may begin in children, where it most commonly affects one leg, and it may spread to other body parts over months or years. It may also begin in adults of any age. Those who write a lot, play a musical instrument very frequently, or participate in some other repetitive skilled activity seem to be most affected.

What causes limb dystonias?

In most cases, the cause of limb dystonia is unknown.

How are the limb dystonias diagnosed?

The diagnosis of the limb dystonias depends on recognition of its characteristic features by an expert, such as a neurologist. There are no medical tests for proving the diagnosis, but several tests may be conducted to rule out other possible problems. These tests may include scans of the affected limb or head, or electrical tests of the affected muscles.

Are there treatments for the limb dystonias?

Treatments for the limb dystonias are challenging. Some may respond to quieting the overactive muscles by injecting them with a muscle relaxer, such as the botulinum toxins. Some patients take pills. Others go for special exercises or physical therapy.

Why did I get a limb dystonia?

The reasons why some people get limb dystonias are unknown. In some cases, it may be inherited through a change in the genes. In others, it may be caused by something that happened to the brain, like exposure to some infection, chemical, or injury. Experts believe most cases come from a combination of inheritance and some exposure.

Will my limb dystonia get worse?

The limb dystonias usually reach their worst level of severity over a period of weeks or months; then they become stable. In some cases, the problem may worsen over years or spread to another region of the body. Worsening is common when a limb dystonia occurs in a child. In other cases, a limb dystonia can be the first sign of some other disorder, such as Parkinson’s disease, which is more common in adults.

Will my limb dystonia ever go away?

In a few fortunate people, limb dystonias may go away. When it does go away, there always is the risk that it may come back.

Was my limb dystonia caused by an injury to the limb or my head?

Most people with injuries to a limb or head do not develop a limb dystonia. People with a limb dystonia are no more likely to have such injuries than those without a limb dystonia. Though a limb dystonia may develop after some trauma, it is not possible to know for sure if the trauma caused the problem.

What is Meige Syndrome?

Meige Syndrome falls under a group of disorders known as dystonia. Dystonia is a group of movement disorders that are characterized by involuntary muscle contractions that force the body into abnormal movements and positions. Meige Syndrome is a rare neurological movement disorder that includes involuntary contractions of the muscles of the jaw and tongue (oromandibular dystonia) and involuntary muscle spasm and contractions of the muscles around the eyes (blepharospasm). The severity of the symptoms can vary.

Who gets Meige Syndrome?

Meige Syndrome typically begins between the ages of 40-70 years old, but there have been reported cases in younger individuals. Meige Syndrome affects women more often than men.

What causes Meige Syndrome?

The exact cause of Meige Syndrome is unknown.

How is Meige Syndrome diagnosed?

The diagnosis of Meige Syndrome depends on recognition of its characteristic features by an expert, such as a neurologist or ophthalmologist. There are no medical tests for proving the diagnosis, but some tests may be conducted to rule out other possible problems. These may include tests for allergies or dry eyes or scans of the brain.

What is the treatment for Meige Syndrome?

The most useful treatments for Meige Syndrome involve quieting the overactive muscles by injecting them with a muscle relaxer. The most commonly used medications are the botulinum toxins. Some patients also take pills.

Why did I get Meige Syndrome?

The reasons why some people get Meige Syndrome are unknown. In some cases, it may be caused by genetic or environmental factors. It may also be in association with or secondary to other disorders such as Parkinson’s disease.

Will my Meige Syndrome get worse?

Meige syndrome usually reaches its worst level of severity over a period of weeks or months. It may continue to worsen over several years. In rare cases, it may spread to other portions of the body, such as the neck.

Will my Meige Syndrome ever go away?

In a few fortunate people, Meige Syndrome may go away. When it does go away, there always is the risk that it may come back.

Can an allergy cause Meige Syndrome?

Many people with Meige Syndrome (blepharospasm) are incorrectly diagnosed as having allergic reactions affecting the eyes, or dry eye syndromes. While allergies and dry eyes may make the problem worse, they are not believed to be the primary cause.


Please also see Blepharospasm / Craniofacial Dystonia

What is spasmodic dysphonia?

Spasmodic dysphonia is characterized by involuntary spasms of the muscles that control the voice. The spasms cause the voice to become strained, hoarse, or squeaky. Some people can barely talk. Spasmodic dysphonia is the most common form of laryngeal dystonia.

Who gets spasmodic dysphonia?

People of all ages and all races all over the world get spasmodic dysphonia. It most commonly begins in middle age, between 40-65 years old. In rare cases, it may begin in children or older adults. People of both sexes get spasmodic dysphonia, but it is more common in women.

What causes spasmodic dysphonia?

In most cases, the cause of spasmodic dysphonia is unknown.

How is spasmodic dysphonia diagnosed?

The diagnosis of spasmodic dysphonia depends on recognition of its characteristic features by an expert, such as a trained otolaryngologist, neurologist, or speech pathologist. There are no medical tests for proving the diagnosis, but several tests may be conducted to rule out other possible problems. These tests may include use of a special medical telescope to view the inside of the throat.

Are there treatments for spasmodic dysphonia?

The most useful treatments for spasmodic dysphonia involve quieting the overactive muscles by injecting them with a muscle relaxer. The most commonly used treatments include the botulinum toxins, but some patients also take pill medications. Some patients elect to have surgery.

Why did I get spasmodic dysphonia?

The reasons why some people get spasmodic dysphonia are unknown. In some cases, it may be inherited through a change in the genes. In others, it may be caused by something that happened to the brain or the throat, like exposure to some infection, chemical, or injury. Experts believe that most cases come from a combination of inheritance and some exposure.

Will my spasmodic dysphonia get worse?

Spasmodic dysphonia usually reaches its worst level of severity over a period of weeks or months; then it becomes stable. In rare cases, it may worsen over years or spread to another region of the body.

Will my spasmodic dysphonia ever go away?

In a few fortunate people, spasmodic dysphonia may go away. When it does go away, there always is the risk that it may come back.

Can my spasmodic dysphonia be caused by an injury to my throat or neck?

Most people with injuries to the throat or neck do not develop spasmodic dysphonia. People with spasmodic dysphonia are no more likely to have such injuries than those without spasmodic dysphonia. Though spasmodic dysphonia may develop after some trauma, it is not possible to know for sure if the trauma caused the problem.

Other Dystonias

Descriptions of other types of dystonias are being written and will be included on this web site in the near future. These will include the segmental forms of dystonia.

For more information, please visit the web sites of our Patient Advocacy Groups.

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