Blepharospasm (also called benign essential blepharospasm) is blinking or other eyelid movements, like twitching, that you can’t control.

Eyelid twitching usually goes away on its own. But people with benign essential blepharospasm can develop severe and chronic (long-term) eyelid twitching.

Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.

The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment.

In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome.

Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men.

The causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at risk.

Studies suggest that this condition may be related to other forms of adult-onset dystonia, including uncontrolled twisting of the neck muscles (spasmodic torticollis) and spasms of the hand and finger muscles (writer's cramp). Researchers suspect that benign essential blepharospasm and similar forms of dystonia are associated with malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement.

Although genetic factors are almost certainly involved in benign essential blepharospasm, no genes have been clearly associated with the condition. Several studies have looked at the relationship between common variations (polymorphisms) in the DRD5 and TOR1A genes and the risk of developing benign essential blepharospasm. These studies have had conflicting results, with some showing an association and others finding no connection. Researchers are working to determine which genetic factors are related to this disorder.

Normal Function

The DRD5 gene provides instructions for making a protein called dopamine receptor D5, which is found in the brain. This protein works together with a chemical messenger (neurotransmitter) called dopamine. Dopamine fits into the D5 receptor like a key in a lock, which triggers chemical reactions within nerve cells. Dopamine signaling has many critical functions in the brain, including regulation of attention, mood, memory, learning, and movement.

Health Conditions Related to Genetic Changes

Benign essential blepharospasm

Several studies have examined a possible relationship between a common variation (polymorphism) in the DRD5 gene and benign essential blepharospasm. The results of these studies have been mixed. Some research has suggested that the polymorphism, a short repeated segment of DNA known as allele 2, occurs more often in people with benign essential blepharospasm than in people without the disorder. However, other studies have found no connection between this polymorphism and benign essential blepharospasm. Researchers are still working to clarify whether variants in the DRD5 gene are associated with this disorder.

Other disorders

Other polymorphisms in the DRD5 gene appear to be associated with a common behavioral condition called attention-deficit/hyperactivity disorder (ADHD). This condition, which typically begins in childhood, is characterized by overactivity, impulsive behavior, and difficulty paying attention.

Most studies of the DRD5 gene and ADHD have focused on a polymorphism located near the beginning of the gene. The region consists of two DNA building blocks (base pairs) that are repeated multiple times in a row. The size of this segment ranges from 134 to 156 base pairs. Multiple studies have suggested that a particular variant, which is 148-base pairs long, is associated with a moderately increased risk of ADHD. However, it is unclear how this polymorphism affects the risk of the disorder.

Variations in the DRD5 gene are among many factors under study to help explain the causes of ADHD. A large number of genetic and environmental factors, most of which remain unknown, likely determine the risk of developing this complex condition.

Other Names for This Gene

• d(1B) dopamine receptor
• d(5) dopamine receptor
• D1beta dopamine receptor
• DBDR
• dopamine D5 receptor
• dopamine receptor D1B
• DRD1B
• DRD1L2
• DRD5_HUMAN
• MGC10601

Genomic Location

Normal Function

The TOR1A gene (also known as DYT1) provides instructions for making a protein called torsinA. This protein is found in the space between two neighboring structures within cells, the nuclear envelope and the endoplasmic reticulum. The nuclear envelope surrounds the nucleus and separates it from the rest of the cell. The endoplasmic reticulum processes proteins and other molecules and helps transport them to specific destinations either inside or outside the cell. Although little is known about the function of torsinA, studies suggest that it may help process and transport other proteins. TorsinA may also participate in the movement of membranes associated with the nuclear envelope and endoplasmic reticulum, and in stress response signaling.

TorsinA is active in many of the body's tissues, and it is particularly important for the normal function of nerve cells in the brain. For example, researchers have found high levels of torsinA in a part of the brain called the substantia nigra. This region contains nerve cells that produce dopamine, a chemical messenger that transmits signals within the brain to produce smooth physical movements.

Health Conditions Related to Genetic Changes

Early-onset isolated dystonia

A particular variant (also called a mutation) in the TOR1A gene causes most cases of early-onset isolated dystonia. This condition is one of many forms of dystonia, which is a group of conditions characterized by involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements.

This TOR1A gene variant, which is often called the GAG deletion or delta GAG, deletes three DNA building blocks (base pairs) from the TOR1A gene. The resulting torsinA protein is missing one protein building block (amino acid) in a critical region. The altered protein's effect on the function of nerve cells in the brain is unclear. People with early-onset isolated dystonia do not have a loss of nerve cells or obvious changes in the structure of the brain that would explain the abnormal muscle contractions seen with this condition. Instead, the altered torsinA protein may have subtle effects on the connections between nerve cells and likely disrupts chemical signaling between nerve cells that control movement and sensory feedback in the brain. Researchers are working to determine how a change in this protein leads to the characteristic features of early-onset isolated dystonia.

Benign essential blepharospasm

Several studies have examined a possible relationship between common variations (polymorphisms) in the TOR1A gene and several forms of adult-onset dystonia, most commonly dystonia isolated to a certain body region (task-specific focal dystonia), abnormal posture and spasms of the hand while attempting to write (writer's cramp), and spasms of the eyelids in the form of benign essential blepharospasm. The results of these studies have been mixed. Some research has suggested that certain polymorphisms increase a person's risk of developing these forms of dystonia. However, other studies have found no connection between changes in the TOR1A gene and condition risk. Researchers are still working to clarify whether variants of the TOR1A gene are related to adult-onset dystonias.

Other Names for This Gene

• DQ2
• Dystonia 1 protein
• dystonia 1, torsion (autosomal dominant; torsinA)
• DYT1
• TOR1A_HUMAN
• torsin family 1, member A (torsin A)
• Torsin-1A
• torsinA

Genomic Location

Most cases of benign essential blepharospasm are sporadic, which means that the condition occurs in people with no history of this disorder or other forms of dystonia in their family.

Less commonly, benign essential blepharospasm has been found to run in families. In some of these families, the condition appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. However, no causative genes have been identified.

Blepharospasm usually starts with small eyelid twitches that happen every once in a while. Over time, the twitching may happen more often and cause your eyes to close completely. That can make it hard to do everyday things, like reading or driving.

Some people also have facial twitches (twitches in other parts of the face).

If my eyelids twitch, do I have blepharospasm?

Not necessarily. Benign essential blepharospasm is rare, and lots of different things can cause eyelid twitching — like stress, dry eye, too much caffeine, and lack of sleep. Most of the time, the twitching goes away on its own.

Sometimes, eyelid twitching can happen as part of other health conditions like Parkinson’s disease, Meige syndrome, and Tourette syndrome. And it’s a side effect of certain medicines.

Go to your eye doctor if:

• Your eyelids keep twitching for more than a few weeks
• Your eyes close completely when they twitch
• Other parts of your face start to twitch, like the muscles on 1 side of your face

Your eye doctor can check for blepharospasm as part of a comprehensive eye exam. They’ll also ask you about your medical history and family medical history.

There’s no cure for blepharospasm, but there are treatments that can help with your symptoms.

Lifestyle changes like managing your stress, getting enough sleep, and cutting down on food or drinks with caffeine (like coffee, tea, or soda) may also help.  

If another condition is causing your eyelids to twitch, treating that condition may stop the twitching. For example,if you have dry eye, your doctor may recommend eye drops or medicine to help your eyes make more tears. Learn more about dry eye.