Glossary

The following glossary was created to help clarify the information included in this website. Please note that the definitions below are given in the specific context of dystonia, and that some of the words and phrases may have additional meanings and implications beyond dystonia

Ablation (pronounced: ab-lay’-shun): When used in terms of brain surgery, a category of procedures in which an area of the brain is permanently altered or disabled to reduce unwanted movement symptoms. Examples include pallidotomy or thalamotomy

Acetylcholine (pronounced: ah-see’-til-koh-leen): A neurotransmitter chemical that allows nerve cells and muscles to communicate. Acetylcholine transmits signals from the nerve endings into the muscle, signaling the muscle to contract

Adult onset: A category of dystonia in which the symptoms begin in adulthood, typically after the age of 30. The term “late onset” may also be used

Athetoid/Athetosis (pronounced: atha-toid’/atha-toe’-sis):Athetosis is a specific kind of involuntary muscle movement. Athetoid movements are slow and continuous with a “writhing” quality. Athetosis especially involves the hands and may also affect the torso and other parts of the body

ATP1A3: The ATP1A3 gene is the gene associated with rapid-onset dystonia-parkinsonism

Autosomal dominant (pronounced oh’-toe-so-mal): An autosomal dominant disorder is a disease in which only one parent needs to have the mutated gene for a child to inherit the disease. An example is DYT1 dystonia

Autosomal recessive (pronounced oh’-toe-so-mal): An autosomal recessive disorder is a disease in which both parents must have the mutated gene for a child to inherit the disease. An example is a form of dopa-responsive dystonia associated with the hTH gene

Axial: Dystonia that affects the ‘midline’ of the body—chest, abdominal, and back muscles—may be referred to as axial dystonia. Axial dystonia is often a component of generalized dystonia

Ballistic/Ballism: Ballistic movements are severe, often swinging or jerking, involuntary muscle movements that involve portions of the limb such as the shoulder and elbow, and hip and knee. Ballism may be seen in conjunction with chorea

Basal ganglia: An area deep inside the brain that is believed to play a major role in the coordination of voluntary muscle movement. The basal ganglia are a group of structures that include the globus pallidus (also called the pallidum), the thalamus, and the subthalamic nucleus

Blepharospasm (pronounced blef-arrow’-spazim): Focal dystonia that affects the muscles of the eyelids and brow is called blepharosm

Brain pathways: The brain communicates with strings or “pathways” of individual brain cells that fire signals at each other in circuits or patterns. The signals are chemical messages needed to complete a task. These circuits are how areas of the brain communicate with one another and with the rest of the body. In an individual with dystonia, the circuits that facilitate the movement of the foot are disrupted by abnormal activity

Central nervous system: The brain and spinal cord

Cervical dystonia (spasmodic torticollis): Focal dystonia that affects the muscles of the neck and shoulders

Childhood onset: A category of dystonia in which the symptoms begin in childhood, typically before the age of 30. The term ‘early onset’ may also be used

Choreic/Chorea (pronounced kor-ee’-ick/kor-ee’-yah): Choreic movements are typically brief, rapid, involuntary movements of the limbs and facial muscles that serve no purpose. When mild, choreic movements may resemble fidgeting. Chorea is often the characteristic movement symptom of Huntington’s disease

Choreoathetosis (pronounced kor-ee-ah-thuh-toe’-sis): A term used to describe chorea and athetosis occuring simultaneously

Cranial: Dystonia that affects any muscle above the neck—eyes, mouth, jaw, tongue—may be referred to as cranial dystonia

Diurnal fluctuation (pronounced “die-urn-al fluck’-shoo-ay-shun): The phenomenon where symptoms of a disorder are mild early in the day and gradually become more severe as the day goes on. This is a characteristic feature of dopa-responsive dystonia

Dominant: An autosomal dominant disorder is a disease in which only one parent needs to have the mutated gene for a child to inherit the disease. An example is DYT1 dystonia

Dopamine: A neurotransmitter chemical found in the brain and believed to play a role in many dystonias

Dyskinesia (pronounced dis’-keh-neez-yah): A general term to describe any kind of involuntary muscle movement. For example, dyskinesias may be dystonic, chroeic, ballistic, resemble other movement disorders, or occur in combination

Dystonic/Dystonia: Dystonic movements are typically patterned and repetitive, causing twisting movements and abnormal postures. Dystonia occurs when opposing muscles are contracting simultaneously. The activation of these muscles may "overflow" to other muscle groups unintentionally

DYT1: The gene associated with a specific form of early onset generalized dystonia (also called Oppenheim’s dystonia) is the DYT1 gene

Early onset: A category of dystonia in which the symptoms begin in childhood, typically before the age of 30. The term “childhood onset” may also be used

Epsilon-sarcoglycan (pronounced ep’-sih-lon sar-koh-gly’-kan): The gene associated with myoclonic dystonia is called the epsilon-sarcoglycan (SGCE) gene

Familial: A disorder that is inherited and occurs in multiple members of an extended family. Some forms of dystonia are described this way

Focal: A general term for any dystonia that affects one area of the body such as the eyes, mouth/jaw, neck, vocal cords, and hands

GAG deletion: The specific mutation in the DYT1 gene that is associated with DYT1 dystonia may be referred to as the GAG deletion because the mutation causes the gene to be lacking in a specific sequence of bases: guanine-adenine- guanine // GAG

Generalized: Generalized dystonia affects the limbs, trunk, and other major body areas simultaneously

Genetic: Genetic dystonias are cause by specific mutations in an individual’s DNA

GTP-CH1: The most common form of dopa-responsive dystonia is believed to be caused by a mutation in the GTP-CH1 gene

Hemidystonia: Dystonia symptoms that affect multiple body areas on only one side of the body may be called hemidystonia. This form is almost always secondary

hTH: A specific form of dopa-responsive dystonia is caused by a recessive mutation in the hTH gene

Hypnogenic (pronounced: hip-no-jen’-ick): A word used to describe symptoms that occur during sleep

Idiopathic (pronounced: id’-ee-oh-path-ick): With regard to dystonia, this term is used to describe a form of the diorder in which no direct cause (such as brain injury due to trauma, medications, another disorder or condition, or a specific gene mutation) can be identified. This word was once often used to describe forms of dystonia that were presumed to be genetic

Inherited: With regard to dystonia, a form that is passed on genetically from parent or ancestor to a child

Intrathecal (pronounced in-tra-thee’-kal): A method to deliver medication directly into the spinal canal by surgically implanting a catheter and pump-like device. An example is intrathecal baclofen, otherwise known as the baclofen pump

Kinesigenic (pronounced kin-eez’-ah-jen-ick): With regard to movement disorders, symptoms that are triggered by sudden body movements such as a startle or by specific activities may be described as kinesigenic. This is most often used to describe certain paroxysmal dyskinesias—i.e. paroxysmal kinesigenic dyskinesias

Laryngeal dystonia (spasmodic dysphonia): A focal dystonia that affects the vocal cords

Late onset: A category of dystonia in which the symptoms begin in adulthood, typically after the age of 30. The term “adult onset” may also be used

Lesioning: When used in terms of brain surgery, a lesioning procedure is one in which an area of the brain is permanently altered or disabled to reduce unwanted movement symptoms. Examples include pallidotomy or thalamotomy. Also known as ablation

Lingual: Dystonia that specifically affects the tongue may be called lingual dystonia

Movement disorder: A movement disorder is a chronic neurological condition that affects the ability to control muscle movement. The three most common movement disorders are tremor, Parkinson’s disease, and dystonia

Myoclonic/Myoclonus (pronounced my’-oh-klon-ick/my’-oh-kloh-nus): Myoclonus is a movement disorder characterized by sudden, brief, shock-like movements. Individuals with myoclonic dystonia exhibit symptoms of dystonia plus very prominent myoclonic movements. Many people with primary generalized dystonia have myoclonic jerks

Nerve cell: A neuron; one of the cells that makes up the nervous system. May describe a brain cell

Nervous system: The body’s system to receive and interpret stimuli and send instructions to the organs and peripheral parts of the body. The nervous system includes the brain, spinal cord, and nerves

Neurological disorder: Any disease or condition that affects the nervous system

Neuron: A nerve cell; one of the cells that makes up the nervous system. May describe a brain cell

Neurotransmitter: A chemical in the body that serves as a “messenger” and transmits signals between nerve cells (also called neurons) or between the nerves and muscles or organs

Non-kinesigenic: With regard to movement disorders, symptoms that are not triggered by sudden or specific body movements (such as a startle) may be called non-kinesigenic. This is most often used to describe certain paroxysmal dyskinesias—i.e. paroxysmal non-kinesigenic dyskinesias, in which symptoms may be triggered by fatigue, stress, alcohol, caffeine intake, temperature, or other factors

Oromandibular dystonia (pronounced oh’-roh-man-dib-u-lar): Focal dystonia that affects face, mouth, and/or jaw. May be referred to as cranial dystonia

Pallidotomy: A surgical procedure for dystonia in which a part of the brain called the globus pallidus (part of the basal ganglia) is permanently altered. This is done to reduce the signals sent to the muscles that instruct them to contract involuntarily

Parkinsonian/ Parkinsonism: Parkinson’s disease is a degenerative neurological disorder with a range of symptoms. Some of the characteristic movement symptoms are a slowness of movement (also called bradykinesia), rigidity of the muscles, and a resting tremor. Symptoms that resemble these elements of Parkinson’s disease may affect people diagnosed with several kinds of movement disorders

Paroxysmal (pronounced: pear-ocks-is’-mal): Symptoms that occur only in episodes or “attacks” may be referred to as paroxysmal

Penetrance: The percentage of people who inherit a specific disease gene mutation who actually develop symptoms of the disease. For example, approximately 30% of people who inherit the DYT1 mutation for early onset dystonia will develop symptoms. This phenomenon may be referred to as reduced, variable, or incomplete penetrance

Peripheral: With regard to dystonia, a phenomenon (such as trauma or surgery) that impacts an area of the body away from the central nervous system, such as nerve endings or muscles

Preimplantation genetic diagnosis: A method of in vitro fertilization in which couples can dramatically reduce the possibility of a child inheriting a disease-causing genetic mutation. Several of a woman’s eggs are fertilized outside her body and those conceptions that test negative for the disease mutation are re-implanted into her uterus. The procedure is feasible for forms of dystonia that are associated with a single gene mutation such as DYT1 dystonia

Primary: Those forms of the disorder that occur without the symptoms of any other neurological or metabolic disease

Psychogenic: A term used to describe physical symptoms that originate from a psychological or psychiatric condition

Ramisectomy: A specific surgical maneuver included in selective denervation for cervical dystonia that involves removing a specific branch of one or more spinal nerves along the cervical vertebrae

Rating scale: A measure created by movement disorder experts to quantify and assess the severity of an individual’s dystonia. An example is the Burke-Fahn-Marsden Dystonia Rating Scale which is names for the physicians who created it

Rhizotomy: A specific surgical procedure in which a specific nerve is removed at the root

Recessive: An autosomal recessive disorder is a disease in which both parents must have the mutated gene for a child to inherit the disease. An example is a form of dopa-responsive dystonia associated with the hTH gene

Secondary: Those forms of dystonia that are attributed to an outside factor such as physical trauma, exposure to certain medications, and additional neurological or metabolic diseases

Segmental: A word used to describe dystonia that affects several adjoining parts of the body, for example the neck, shoulders, and arm

Sensory trick: A phenomenon where a person with dystonia may temporarily reduce symptoms by gently touching part of the body. Common examples include a person with cervical dystonia placing a finger under the chin to straighten the head, or a person with dystonia of the jaw placing a toothpick in the mouth to reduce symptoms. Some symptoms respond to sensory tricks and others do not, and the same sensory tricks may not work for different people, even if they have similar symptoms. Also known asgeste antagoniste

Spasmodic dysphonia: A synonym for laryngeal dystonia

Spasmodic torticollis: A synonym for cervical dystonia

Sporadic: A case of dystonia that is genetic or presumed to be genetic when the affected person does not have a history of dystonia in the family

Tardive: A term used to describe secondary dystonia or dyskinesias that are specifically attributed to exposure to specific drugs // drug-induced

Task-specific: A term used to describe forms of dystonia such as writer’s cramp and musician’s dystonia that occur only when the individual is performing a specific task - such as writing or playing a musical instrument

Thalamotomy: A surgical procedure for dystonia in which a part of the brain called the thalamus (which is part of the basal ganglia) is permanently altered. This is done to reduce the signals sent to the muscles that instruct them to contract involuntarily

Torsion (pronounced tor’-shun): The word torsion is usually used in reference to generalized, axial, or segmental dystonia. Torsion refers to the twisting element of dystonia. It describes muscles contracting against each other

TorsinA (pronounced: tor’-sin-ay): The name of the protein associated with the DYT1 gene and early-onset generalized dystonia

Writer’s cramp: A focal dystonia that affects the forearm, hand, and fingers

X-linked: A disease that is inherited in an x-linked pattern is caused by a mutation in one of the sex chromosomes. Sex chromosomes determine an individual’s gender, and so the symptoms of an x-linked disorder will affect females and males differently. For example, in x-linked dystonia parkinsonism, women may be carriers of the mutation but rarely develop symptoms. Men, however, may inherit the mutation from their mothers and almost always develop symptoms when they do

Prognosis

My dystonia symptoms have been stable for five years. Should I expect them to remain the same, or will they progress and become more debilitating

After a window period of about three to five years after symptoms begin, dystonia will often stabilize and not progress to other body areas. However, dystonia symptoms are somewhat notorious for changing subtly over time and varying in intensity depending on a number of factors -for example, fatigue, stress level, menstruation

As a general rule, the older a person is when dystonia develops, the less likely it will progress to multiple body areas. The younger a person is when dystonia develops, the more likely that it will progress to multiple body parts over time, particularly if the dystonia begins in a leg. In those patients, the disorder will typically stabilize within a few years and not progress any further. Children who first develop dystonia in the neck or arm may experience little, if any, progression beyond those areas, and kids who develop paroxysmal dystonia or dyskinesias may have symptoms that plateau in mid-childhood, worsen during puberty, and improve significantly in adulthood

In some dystonia patients, especially those with cervical dystonia, there may be a temporary remission that lasts months or years

The bottom line, unfortunately, is that dystonia is unpredictable. There is no guarantee that the disease will not progress even after a period of stabilization, and no way to predict how symptoms may change over time. However, experienced physicians will be aware that symptoms may change subtly over time, and there are a variety of treatment options that can be used to adjust the treatment plan

Can dystonia go into remission and reappear

Yes, but remission happens only rarely. It was once believed that 10% of people with dystonia might have such a spontaneous remission. It is probably much less than that. More frequently, instead of a true remission, the severity of dystonic postures may be reduced for months or years in a small minority of patients. Nearly everyone has some degree of day-to-day fluctuation in the severity of his or her symptoms For a few, the fluctuation may be so much better and for such a long time that it seems like a remission. However, a careful exam will still reveal some involuntary postures. Those who do seem to have a true remission are likely to again have symptomatic dystonia sometime later

What are the chances of a child with generalized dystonia affecting mainly the feet and legs developing other types of dystonia, like cervical dystonia

When dystonia begins in childhood involving the legs and the feet, it is quite common for it to progress to involve the trunk, the arms, and even the neck. This is particularly true for early-onset generalized dystonia. Children who first develop symptoms in the arm or neck typically do not experience widespread progression to other areas. Early identification of symptoms and prompt treatment can often minimize the impact of dystonia on a child’s mobility and quality of life

After years of having dystonia, is the skeletal system affected in any way

Dystonia does not have a primary effect on bones, but because of the abnormal postures that result from dystonic spasms, unusual mechanical stress may be placed on bones. For instance, if someone has a severe dystonia that involves a very sustained posture in one position, he/she may get a shortening of the ligaments and tendons so that the joint becomes "contracted" and can no longer move freely through a full range of motion. With time, this might be expected to cause excessive wear on the affected bones. Even short of a contracture, some bones may experience excessive wear because of such abnormal mechanical stresses. Bone changes, however, are not usually symptomatically important to people with dystonia. It is more often the case that we are concerned about dystonia’s effect on muscles and related supportive tissues as they influence posture

Frequently Asked Questions: Causes

Can childhood illnesses such as measles cause dystonia

Rarely is dystonia linked to the occurrence of a childhood illness. Dystonia can arise from birth injury, which can be associated with rare childhood metabolic disorders or following a brain infection such as encephalitis. Subacute sclerosing panencephalities is a rare complication of measles that has been associated with dystonia. In most instances, however, uncomplicated measles does not cause dystonia. The disorders mentioned above usually have other associated features, including cognitive problems, seizures, or other neurologic abnormalities, and do not typically cause only dystonic symptoms

Sometimes trauma to the head or neck area may cause slippage of the bony spine, particularly in a child. This is called atlantoaxial dislocation and may result in symptoms that resemble spasmodic torticollis but is, in fact, not dystonia but an orthopedic problem. This condition may be called infant torticollis

If a person is diagnosed with primary dystonia but there is no family history, does that mean it’s not genetic

The absence of a clear family history of dystonia does not rule out a hereditary or genetic basis for childhood-onset or adult-onset dystonias that are diagnosed as primary (meaning that they cannot be attributed to trauma, medications, or another disease or condition)—this applies to generalized and focal primary dystonias. Most primary forms of dystonia, including those for which no genes have yet been discovered, are believed to be caused by a combination of genes and other unknown factors. Those genes and factors have simply not been identified at this time

It’s possible that breakthroughs in genetics may soon allow the diagnosis of hereditary dystonia even in families without a clear family history

Frequently Asked Questions: Symptoms

How does dystonia affect the nervous system

Dystonia disrupts the nervous system’s ability to allow the brain and the muscles to communicate. The body’s ability to control muscle movements is very complicated and involves many areas in the brain. The area of the brain that is believed to be most affected by dystonia is called the basal ganglia. The basal ganglia are a deep region of the brain that monitors the speed of movement and controls unwanted movements. The basal ganglia are responsible for sending signals to the muscles instructing them when to move and when to stop moving. For reasons we don’t yet understand, the basal ganglia’s instructions to the muscles become irregular and chaotic, resulting in the unwanted muscle movements and contractions

In addition, as researchers began learning more about task-specific dystonias such as the various forms that affect musicians, it became clear that there is a sensory component to dystonia symptoms. Not only does the brain send irregular messages to the brain, but the affected muscles send chaotic messages back to the brain—the nervous system is overtaken by a self-perpetuating cycle of abnormal communication. This revelation led to a new perspective that suggested that the brain and muscles could be “retrained” to communicate through physical therapy. Rehabilitation is an active area of research that is likely to continue to provide direction for new therapies and may be particularly relevant to the treatment of secondary dystonias

Can dystonia come about overnight? Are there any warning signs

Dystonia generally develops gradually. Exceptions include rapid-onset dystonia-parkinsonism (which may develop over days or hours) and the acute dystonic reactions associated with certain antipsychotic drugs

Symptoms of dystonia may begin very mildly. Subtle facial or jaw spasms, or difficulty chewing may suggest early face or jaw dystonia. Changes in the cadence or pitch of speech may be early signs of laryngeal dystonia/spasmodic dysphonia. Mild jerky head movements, stiff neck, or local neck discomfort may occur in the early stages of cervical dystonia. Cramping or fatiguing of the hands during writing, other manual activities, or walking may suggest limb dystonia. Similarly, children who develop generalized dystonia may first complain of cramps in a leg or a foot turning in. Sometimes a focal dystonia may arise directly following injury to that body region

Sensory symptoms may precede focal dystonia in some people. Common examples would be a gritty sensation in the eye preceding blepharospasm and irritation of the throat preceding laryngeal dystonia/spasmodic dysphonia

Can dystonia affect muscles such as the heart or diaphragm, or other organs

Dystonia affects muscles that can be controlled voluntarily—mostly the skeletal muscles. Dystonia does not affect smooth muscles, such as the heart. However, dystonia can affect breathing in several ways. Severe neck dystonia can cause difficulty breathing when the upper airway is impacted. Dystonia involving the vocal cords can potentially cause shortness of breath when the vocal cords close tight, but in general the tightness is present primarily when speaking. The act of breathing involves muscles between the ribs and a large muscle called the diaphragm. Dystonia can cause stiffness in the muscles between the ribs and can cause a sensation or shortness of breath. Occasionally, the diaphragm can also be affected. Finally, when a person with dystonia has involvement of the spine, twisting of the torso can limit how much the lungs can expand when breathing, and this can potentially cause shortness of breath

The bladder is made up of smooth muscle, and therefore not affected by dystonia. However, the muscles around the opening of the bladder (the external sphincter) can very rarely become involved, resulting in difficulty of passing urine. This seems to occur most often dystonia that is a symptom of another neurological disease such as Parkinson's disease

Is dystonia fatal

In the overwhelming majority of people with dystonia, it does not shorten life expectancy or result in death. In very severe generalized dystonia that affects many body areas, there can be problems that arise secondary to the dystonia that may cause life-threatening conditions. However, these instances are quite rare and usually treatable. Dystonia does occur as a symptom of many degenerative disease, some of which do impact mortality, but the dystonia itself does not shorten life span

What is a dystonic storm

Rarely, patients with dystonic symptoms develop increasingly frequent and intense episodes of severe generalized dystonia called status dystonicus. A single episode of this severe dystonia may be referred to as a “dystonic storm” or dystonic attack

Although the exact numbers are not known, anecdotal accounts suggest that relatively mild to moderate dystonic storms are a fairly regular experience for some individuals with generalized dystonia, especially secondary dystonias. Most cases of severe status dystonicus occur in persons who have generalized dystonia that is complicated by other conditions such as metabolic disease, secondary effects of a traumatic injury, or additional neurological conditions

If a person’s swallowing or breathing is affected by a dystonic storm, he/she may require emergency medical attention. In very severe cases, individuals may be admitted to an intensive care unit setting where they may be sedated with medication or need temporary mechanical ventilation to support breathing

Although the exact origins of status dystonicus are not known, some documented cases appear to be triggered by an abrupt change in medication or severe infections. Medications and botulinum toxin may be used to reduce or alleviate symptoms of a severe dystonic storm. Individuals experiencing a relatively mild or moderate dystonic storm may have a specific medication prescribed by a physician to take at the onset of the attack, may get some relief from a “sensory trick,” or may simply wait for the symptoms to subside

Is there a correlation between dystonia and fatigue

The constant movement and muscle contractions of dystonia can be compared to working out approximately 18 hours a day—and for people whose symptoms don't stop during sleep, 24 hours a day. This can definitely result in fatigue and diminished stamina. Fatigue may be confused with lack of energy or motivation which may be a sign of depression or other medical conditions. Adequate rest and supplementing sleep with restorative practices such as meditation or relaxation techniques are a mainstay of coping with fatigue for many people

Can dystonia cause difficulty swallowing or breathing

Yes, sometimes. This depends primarily on the part(s) of the body affected. For instance, some people with dystonia involving the jaw or tongue may have chewing or swallowing difficulty. Occasionally, people with very severe cervical dystonia also may have some swallowing difficulty. Treatments, whether medications or botulinum toxin injections, can also potentially have swallowing side effects. Dystonia rarely affects breathing. Severe generalized dystonia may involve the diaphragm muscles (the primary breathing muscles) or cause enough truncal twisting to cause some problems with regular breathing

Is there anything helpful that can be done to ease my dystonia in a stressful situation

Although clearly stress does not cause dystonia, many people with dystonia have reported that their symptoms worsen in stressful situations. This worsening is temporary and resolves when the stressful situation has passed. Unfortunately, getting rid of all stress in life is not possible. Therefore, techniques which result in a lessening of the stressful feelings may be beneficial. Relaxation techniques can be of considerable help. Although there are medications which can decrease anxiety, the effects of stress are best managed without additional medications. Health-care professionals familiar with the techniques of stress reduction may be very helpful

Related & Differential Disorders

What is deafness-dystonia-optic neuronopathy syndrome

Deafness-dystonia-optic neuronopathy syndrome (DDON) is also known as Mohr-Tranebjaerg Syndrome. It is a genetic disease that includes hearing and vision impairment as well as neurological and psychiatric symptoms

Males with DDON have hearing impairment in early childhood, usually beginning around 18 month of age. Symptoms include slowly progressive dystonia or ataxia in the teens, slowly progressive decreased vision beginning about age 20 years, and dementia beginning about age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be constant in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia

Treatment is multifaceted and includes correcting, as much as possible, the hearing and vision symptoms, reducing dystonia and ataxia symptoms, and addressing psychiatric conditions

What is the difference between facial tic and blepharospasm

The term “facial tic” is often used to describe involuntary movements that involve the face, particularly those around the eyes and the corner of the mouth. These movements are usually brief and not sustained. They are usually not associated with the “squeezing” of the muscles around the eyes that typically accompanies blepharospasm

The common facial tic includes the condition hemifacial spasm, a condition characterized by very rapid, abnormal contractions of one side of the face. Sometimes hemifacial spasm may follow Bell's palsy (Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to one of the two facial nerves.) or be associated with facial weakness. Often the movements are provoked by eating, talking, or whistling. Some patients experience symptoms in the upper areas of the face when they move the lower part of the face

Another facial tic is the quick facial movements that occur in people who have chronic motor tics. Chronic motor tics may affect one or both sides of the face, and the movement is usually preceded by an urge to make the movements. After the movement is made, the urge is often relieved. The individual with chronic motor tics usually has the ability to suppress the movements if they concentrate on the movements. Chronic motor tics may involve any part of the body including the face, arms, legs, or trunk

The manifestation of blepharospasm is an involuntary movement that involves the upper face, and may also involve the lower face, tongue, pharynx, jaw, neck, or other body segments. However, these movements are usually not suppressible, because they are involuntary and not under the direct control of the person with them

There is some overlap among how blepharospasm and tics appear, so that even experts may disagree on whether a patient has chronic motor tics or blepharospasm. Most of the disagreement will occur when the symptoms are subtle, and they present with similar findings on examination. Taking a history will sometimes clarify the cause. Hemifacial spasm and blepharospasm are known to have an excellent response to botulinum toxin treatment. Facial tics may respond, too

What is the difference between essential tremor and dystonia tremor

Essential tremor is one of the most common movement disorders. It is usually inherited. The tremor is not present when someone is relaxed but becomes evident when a body part assumes a posture or undertakes a specific action. The tremor is generally rhythmic and can vary from being only subtle to very severe and debilitating. The tremor affects the hands and arms and may affect the head and the voice

Dystonic tremors are quite variable in their presentation and on some occasions can look like essential tremor. They are, however, seldom seen in isolation and usually are associated with dystonic body postures. The tremors are also sometimes somewhat more irregular than what is seen with essential tremor. Because essential tremor and dystonia tremor may look the same and both can be genetic, researchers have investigated whether patients with essential tremor might carry an abnormality in the DYT1 gene that is associated with early onset genetic dystonia. This has been found not to be the case although the actual gene for essential tremor has not been identified

What is the difference between a Parkinson's disease patient with dystonia and a dystonia patient with Parkinson's symptoms

Parkinson’s disease is a neurological movement disorder with a wide array of symptoms that includes slowness of movement, rigidity of muscles, tremor, loss of balance, memory impairment, personality changes, and others. The “movement” symptoms of Parkinson’s disease (slowness of movement, rigidity, tremor, loss of balance) may be called parkinsonism. Parkinsonism is one aspect of Parkinson’s disease

Symptoms of dystonia and parkinsonism can occur in the same patient because both of these movement disorders seem to arise from involvement of the basal ganglia in the brain. Both parkinsonism and dystonia can each be caused by a great many disorders, and some of these disorders includes features of both parkinsonism and dystonia

For example, there are the disorders known as dopa-responsive dystonia (DRD) and x-linked dystonia-parkinsonism (XDP). DRD commonly begins in children as a dystonia predominately affecting the feet and being first manifested by an abnormal gait. In these children, features of parkinsonism tend to develop such as slowness of movement and also decreased muscle tone

When DRD begins in adults, it usually appears first as parkinsonism and can be mistaken for Parkinson's disease. XDP can also first develop as either dystonia or parkinsonism, and the symptoms of other disorder may occur

In the parkinsonian disorder known as Parkinson's disease, certain features of the disease can be thought of as a form of dystonia. These features include postural changes in the hands and feet and also in the neck. These partial changes are so common that most physicians consider them as part of Parkinson's disease and do not consider them to be a form of dystonia that has developed on top of parkinsonism. In parkinsonian syndromes such as progressive supranuclear palsy, certain features of dystonia may appear -such as dystonia of the facial muscles or the neck muscles

In primary dystonia, by definition, the patient presents only pure dystonia without any features of parkinsonism. If parkinsonism were to develop in such a patient, it could be considered that this patient happens to have two different disorders. For example, a patient may have adult-onset cervical dystonia in which the neck is twisted and, after several years, develop features of parkinsonism. It is generally believed that cervical dystonia and Parkinson's disease are two separate entities occurring in the same patient

Some medications might be helpful for both parkinsonism and dystonia symptoms. For example, levodopa is the most effective drug to reverse parkinson symptoms, and it is also very effective in treating DRD and in some patients with other forms of dystonia. Anticholinergic drugs, such as Artane®, are often used to treat dystonia, but they can also help some of the symptoms of parkinsonism. Essentially all the drugs currently in use to treat dystonia were first utilized in the treatment of Parkinson's disease

Is tremor a symptom of dystonia

Tremor is not a main symptom of dystonia. Dystonia is primarily characterized by an involuntary sustained twisting or cramping posture. If someone began having a tremor, a physician would not necessarily expect dystonic postures as well. Having said that, tremor can sometimes be seen as a secondary symptom. For instance, many patients with cervical dystonia will also have an associated head tremor and some patients with writer's cramp will have an associated writing tremor of the hand. Researchers continue to learn about the relationship between tremor and dystonia

My child developed torticollis at age two. Is this similar to adult-onset spasmodic torticollis/cervical dystonia

Although the term spasmodic torticollis is used to describe cervical dystonia, the word torticollis actually refers to any abnormal twisting of the neck. The words “torticollis” does not necessarily mean dystonia

Torticollis that occurs very early in life (usually within the first few weeks) is not a true dystonia. This condition is called infant torticollis, and there are many different reasons why a baby may have torticollis. The most common form of torticollis in infants is congenital torticollis. Congenital torticollis usually improves with physical therapy; however, surgery may be needed

A toddler who develops torticollis or an irregular neck posture may be affected by a host of conditions including hiatal hernia (with vomiting, feeding problems, and posturing of neck during feeding), double vision (producing head tilt), lack of oxygen or high bilirubin counts during the perinatal period (producing cerebral palsy), severe brain infection (encephalitis), head or neck trauma, toxin exposure, brain or spinal tumors or vascular malformations, specific kinds of brain cysts, and certain chemical disorders, such as Leigh's disease. These conditions may generally be assessed with brain and neck imaging and blood and urine analysis

Cervical dystonia that affects adults usually occurs after age 30. Children who develop true dystonia rarely begin with symptoms in the neck

Is TMJ a form of dystonia
Temporomandibular joint (TMJ) disease is an arthritic condition, not a dystonia. Oromandibular dystonia may be misdiagnosed as TMJ

Preimplantation genetic diagnosis

A major development in genetics and reproductive technology that has increasing applications to the dystonia community is a process called preimplantation genetic diagnosis - PGD

PGD is a method of in vitro fertilization in which couples can dramatically reduce the possibility of a child inheriting a potentially disease-causing genetic mutation. Several of a woman’s eggs are fertilized outside her body and those conceptions that test negative for the disease mutation are re-implanted into her uterus

PGD is feasible for forms of dystonia that are associated with a single gene mutation such as DYT1 dystonia

X-linked dystonia-parkinsonism gene

DYT3 is the only known gene that is associated with X-linked dystonia-parkinsonism (XDP), and a specific mutation is present in essentially all individuals affected by this form. Unlike the vast majority of other dystonias, XDP is inherited in an X-linked manner, meaning that the inheritance pattern depends heavily on gender. A male with XDP passes the mutation on to all of his daughters and none of his sons. A female carrier of the mutation has a 50% chance of passing the mutation onto each child—both girls and boys. Males who inherit the mutation will develop symptoms. Females who inherit the mutation will be carriers and probably never develop symptoms. Carrier testing is available for at-risk females, and prenatal testing and preimplantation genetic diagnosis may be available at select centers

Rapid-onset dystonia-parkinsonism gene

Researchers have identified one mutated gene, called ATP1A3, common to all families affected by rapid-onset dystonia-parkinsonism (RDP). ATP1A3 makes a protein involved in pumping mineral ions into neurons, a process crucial to the nerve cells' ability to communicate with muscle cells. RDP is inherited in an autosomal dominant manner, meaning that only one parents needs to have a gene mutation for a child to inherit the disease

Scientists have found multiple different mutations in the ATP1A3 gene. Each of the mutations caused a different incorrect amino acid to be incorporated into the protein

Genetic testing for the ATP1A3 mutations may be available through select medical centers

Myoclonic dystonia: the SGCE gene

Mutations in the epsilon-sarcoglycan (SGCE) gene are associated with myoclonic dystonia. Although mutations in two other genes, DRD2 and DYT1, have been associated with myoclonic dystonia the significance is unknown. (Not to be confused with the abbreviation for dopa-responsive dystonia, the DRD2 gene was associated with alcoholism in 1990. The DYT1 gene is associated with early onset generalized dystonia.) Genetic testing for the SGCE mutations may be available through select medical centers 

Dopa-responsive dystonia genes

Dopa-responsive dystonia (DRD) includes several sub-types, and specific genes are believed to be responsible for most of these sub-types

The most common form of DRD—often referred to as DYT5 dystonia—is a dominantly inherited condition caused by mutations in the GTP cyclohydrolase 1 gene (GTP-CH1). A dominantly inherited disorder means that only one parent need have the gene mutation in order for a child to inherit the disorder. Individuals with DYT5 DRD often have a parent who also has the mutation, with or without symptoms. The GTP-CH1 mutation has variable penetrance, meaning that not everyone who inherits the mutated gene will develop symptoms. Children of a parent with the GTP-CH1mutation have a 50% chance of inheriting the mutation. At this time, there is no way to predict whether a person with the mutation will ever develop symptoms

About 40% of DRD patients do not carry the mutation in the GTP-CH1 gene associated with DYT5 dystonia. Other known inherited metabolic conditions may cause DRD including a mutation in the recessively inherited tyrosine hydroxylase gene (hTH), autosomal recessive deficiencies of GTP-CH1 and aromatic L-amino acid decarboxylase, and other defects of tetrahydrobiopterin metabolism

At this time, genetic testing for DRD is usually reserved for research studies, and not widely commercially available. Prenatal testing and preimplantation genetic diagnosis may be available through select centers

Early onset dystonia: the DYT1

geneIn 1997, researchers identified the DYT1 gene responsible for early-onset generalized dystonia. The DYT1 gene codes for a previously unknown protein, named "torsinA," and it has significant similarities to the heat-shock proteins and chaperone proteins. Found in virtually all living organisms, the heat-shock proteins help cells recover from stresses including heat, traumatic injury, and chemical poisoning. Until now, no human disease has ever been associated with these proteins

In people with early-onset dystonia, the DYT1 gene has a mutation that causes the deletion of three "letters" or bases—specifically a “GAG” deletion—in the genetic code. This GAG deletion results in the loss of an amino acid, called glutamic acid, which is a component of the torsinA protein. This relatively small change in the torsinA blueprint apparently causes critical changes in the function of the protein. The role of the torsinA protein is currently unknown, but somehow this defective protein disrupts communication among the neurons responsible for movement and muscle control, leading to the symptoms of the dystonia disorder

Researchers believe that the same mutation in the DYT1 gene appeared independently in several ethnic populations throughout history and is possibly one of only a few mutations that result in early-onset dystonia. Exactly how the abnormal gene causes the dystonia is presently unknown

Inheritance of DYT1

DYT1 generalized dystonia is inherited in an autosomal dominant manner, meaning that only one parent needs to have a copy of the mutated DYT1 gene for a child to inherit the disorder. If one parent has the mutated gene, there is a 50% chance that a child will inherit that gene. However, simply having the mutated gene does not necessarily mean that a person will develop the disorder. This phenomenon is called variable penetrance. For reasons that scientists do not yet understand, only 30 to 40% of those with the abnormal DYT1 gene ever develop symptoms of dystonia—that means that 60 to 70% of people who carry this gene never manifest symptoms. If a person has the DYT1 mutation (with or without symptoms), there is about a 15% chance that his/her children will develop dystonia. There is no way yet to predict whether a person with the abnormal gene will develop symptoms of the disorder, and the severity of the illness may differ markedly within a family

DYT1 Testing

Genetic testing is now available for individuals affected with early-onset or limb-onset dystonia. This test specifically identifies the specific mutation in the DYT1 gene that is associated with dystonia. Using DNA obtained from a small blood sample, this test analyzes for the presence of the known GAG deletion. It allows for diagnostic testing, confirmation of the diagnosis, carrier status, prenatal testing, and preimplantation genetic diagnosis. Testing is usually reserved for people who develop dystonia as children without the symptoms of other neurological disorders, or develop dystonia in the limbs. This test is unlikely to be positive for individuals with late-onset, primarily cervical or cranial dystonia, or blepharospasm, unless there is a family history of early-onset dystonia

The testing for the DYT1 gene is performed through a local neurologist, and all persons who are considering a genetic test for the DYT1 mutation should consult a genetic counselor

Dystonia genes

The term "dystonia genes" is a little misleading. Several genes have been associated with certain forms of dystonia. Every human being, whether they have dystonia or not, has theses genes. The genes themelves, in their normal states, do not cause dystonia. These genes become "dystonia genes" when they contain very specific mutations that change how the gene operates and trigger the onset of dystonia symptoms


Genes that are defective in some way cannot produce proteins correctly and therefore either cause disease directly or somehow influence the symptoms of the disease. Errors in genes are responsible for an estimated 3,000 to 4,000 clearly hereditary diseases, including certain forms of dystonia

At present researchers have recognized multiple forms of inheritable dystonia and have identified at least 13 genes or chromosomal locations responsible for the various manifestations including

DYT1 early-onset generalized dystonia
Dopa-responsive dystonia
Paroxysmal dystonias
X-linked dystonia-parkinsonism
Myoclonic dystonia
Rapid-onset dystonia-parkinsonism

Identifying these dystonia genes is important because it gives researchers the first tool to unravel the complicated series of biochemical events that causes dystonia symptoms. Once researchers have a better understanding of how and why symptoms develop, better treatments and therapeutic strategies will be developed

For example, researchers discovered that dopa-responsive dystonia is caused by a mutation in a gene that produces a specific enzyme that the body needs to make a chemical called “dopamine.” Dopamine is a neurotransmitter in the brain. A problem in the brain’s ability to produce or manage dopamine disrupts the ability of the nervous system to work properly. By understanding the precise neurotransmitter that was affected, it became clear that small doses of a medication called levodopa could be used to treat affected persons. Most forms of dopa-responsive dystonia respond dramatically to levodopa, and this would not have been confirmed without the gene research. These discoveries also suggest that other genes involved in the brain’s use of dopamine may cause variant forms of this disorder

DNA, genes, and proteins

Genetics is an area of science that holds a great deal of promise for providing researchers and physicians with a better understanding of dystonia. Genetics is the study of how traits and diseases are inherited in families. Genetics includes the study of the specific genes that carry our genetic material, and how changes to these genes (called “mutations”) lead to disease symptoms

The human body is made up of billions of microscopic cells. Each human cell has a large central body called the nucleus. Inside this nucleus is our DNA (deoxyribonucleic acid). DNA is a long threadlike molecule that contains a complete set of basic genetic instructions for the human body. DNA is sectioned into 23 pairs of chromosomes

Each chromosome, in turn, carries thousands of genes arranged like beads on a string. There are over 100,000 or so genes that determine, at least in part, traits such as eye color, height, blood types, and bodily functions. The function of a gene is to provide instructions that tell cells how to behave. Most cells provide the genetic code to create specific proteins

Proteins are responsible for every chemical reaction essential for life. Hormones, enzymes, and neurotransmitters are all proteins. The body communicates with proteins, and proteins help cells make other chemicals that the body needs like hemoglobin and antibodies

The hereditary instructions contained in a gene are written in a four-letter code, with each letter corresponding to one of the chemical ingredients (called bases) of DNA: A (Adenine), T (Thymine), C (Cytosine), G (Guanine). Genes are, in essence, the "recipe" which is written in DNA language. A certain sequence of the bases, As, Ts, Cs, and Gs, constitute a recipe for a specific protein. The DNA plan contains "recipes" for making about 50,000 different types of proteins, and every second cells are using the gene recipes to make the proteins they need to function

Genetics

A pressing question for many people with dystonia is Will I pass dystonia onto my children and grandchildren?The answer to this question depends greatly on the form of dystonia and what is currently known about the genetics of that form. There are genetic forms of dystonia that we know can be inherited, forms that are apparently not inherited, and forms that may or may not be inherited—scientists simply don’t know yet

If your dystonia is the result of trauma, exposure to medications, or a stroke then it is not likely to be genetic and your children and grandchildren will in all likelihood be dystonia-free. Dystonia can be a symptom of many genetically inherited diseases, and the chances of passing along those diseases depends on the inheritance patterns of those conditions

If you have a form of dystonia that is known to be genetic—especially if other people in your family have symptoms—then there is a chance that you may pass the disorder on to your children. At present researchers have recognized multiple forms of dystonia that can be inherited genetically and have identified at least 13 genes or chromosomal locations responsible for the various forms

The forms of dystonia for which genes or gene markers have been identified include early onset generalized dystonia, dopa-responsive dystonia, paroxysmal dystonias, x-linked dystonia-parkinsonism, myoclonic dystonia, and rapid-onset dystonia-parkinsonism. However, as we will discuss below, not everyone who inherits a “dystonia gene” will develop symptoms, and some people develop dystonia that is believed to be genetic without any family history

Scientists are actively seeking additional dystonia genes. Studying the genetics of dystonia will not only help refine diagnostic and reproductive technology applications, but it also contributes greatly to our understanding of dystonia and quest for better treatments and a cure

Psychogenic dystonia

The term psychogenic dystonia refers to the uncommon but well-documented situation where dystonia is secondary to psychological disturbances

Importantly, in all but the most unusual cases, the process is completely subconscious. The individual is not consciously aware of causing the abnormal movements. - The term used to describe individuals who purposefully cause movements for some type of gain is known as “malingering” and is not considered a medical disorder

Symptoms

Psychogenic dystonia may closely resemble “organic” (i.e. non-psychogenic) dystonias, and in most cases only an experienced movement disorder expert can identify the subtle aspects of an individual’s history and physical examination that support a psychogenic cause for the symptoms

Psychogenic dystonia can be extremely disabling with impairment affecting all normal daily activities and even self-care tasks. Therefore, the severity of dystonia and disability that it causes is not helpful in differentiating between psychogenic and non-psychogenic dystonia. Nor is the duration of the problem useful. Some cases of psychogenic dystonia become chronic or sustained lasting many years

Cause

Psychogenic dystonia is considered a form of “conversion disorder.” By this we mean that psychological/psychiatric dysfunction causes physical signs and symptoms. Exactly how and why this occurs is not well understood. It is increasingly recognized that disturbances of brain function do underlie the occurrence of neurological conversion symptoms

The underlying psychiatric disturbance varies from patient to patient. Depression and anxiety have been found to be common in such patients and many of these patients have more than one primary psychiatric problem as well as additional underlying personality disorders. Defining the presence and nature of these problems is also sometimes difficult

Diagnosis

The diagnosis of psychogenic dystonia can be exceedingly difficult. It is complicated by the long and unfortunate history of patients with true organic forms of dystonia being misdiagnosed with psychiatric illness. Secondary dystonias and psychogenic dystonias, in particular, may have similar characteristics. Plus, it is believed that, while rare, psychogenic dystonia is under-diagnosed

Movement disorder experts recognize examples of psychogenic causes for almost all types of abnormal movement. Cases of psychogenic dystonia may account for less than 3% of all dystonia patients

Given the complexities of the diagnosis of dystonia in general, the diagnosis of psychogenic dystonia can only be made by a physician with considerable experience in the field of dystonia and other abnormal movement disorders, often working in partnership with a psychiatric expert in conversion disorders. Patients must be evaluated several times or over a prolonged period before a definitive diagnosis of psychogenic dystonia can be made. A single psychiatric interview is not sufficient to demonstrate the underlying psychiatric dysfunction. Additionally, the presence of overt psychiatric illness in an individual with dystonia is not necessarily support for a “psychogenic” diagnosis. The association may be coincidental or the disability and physical disturbances caused by dystonia can result in psychiatric dysfunction such as depression. Other causes of dystonia must be considered and appropriately excluded using a variety of investigations

Treatment

It is important that psychogenic dystonia is diagnosed correctly since these patients require treatment directed towards the underlying causative psychiatric problems rather than to the dystonic manifestations (although physical therapy can be helpful for both). Trials of medications used to treat organic dystonia will not provide sustained benefit and could be harmful. The best course of treatment may be a combination of medication and psychotherapy under the care of a team of professional, for example a movement disorder expert, a psychiatrist, and a counselor who specializes in cognitive-behavior techniques

There is a clear need for more research directed at defining better and more accurate methods of diagnosis and establishing more effective treatment guidelines and methods

Neurological and Metabolic Diseases

Dystonia can occur as a part of the following disorders and conditions

Cerebrovascular or ischemic injury -stroke
Arteriovenous malformation
Perinatal cerebral injury
Viral encephalitis
Subacute sclerosing panencephalitis
AIDS
Creutzfeldt-Jakob disease
Kernicterus
Huntington’s disease
Parkinson’s disease
Spinocerebellar ataxias
HARP syndrome -Hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration
Familial frontotemporal dementias
Familial basal ganglia calcifications
Wilson’s disease
Juvenile parkinsonism
Neurodegeneration with brain iron accumulation type 1
Ataxia-telangiectasia
Triosephosphate isomerase deficiency
Vitamin E deficiency
Biopterin deficiency
Sphingolipidoses
Niemann-Pick disease type C and D
Ceroid lipofuscinosis
Homocystinuria
Hartnup disease
Methylmalonic aciduria
Tyrosinaemia
Lesch-Nyhan syndrome
Rett’s syndrome
Pelizaeus-Merzbacher disease
Dystonia-deafness syndrome
MERRF -myoclonus epilepsy associated with ragged-red fibers
MELAS -myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke
Leber’s disease
Leigh’s syndrome
Neuroacanthocytosis
Neuronal intranuclear inclusion disease
Haemochromatosis
Progressive supranuclear palsy
Multiple system atrophy
Corticobasal ganglionic degeneration
Dentatorubropalidoluysian atrophy
Glutaric academia
Methylmalonic academia
Homocystinuria
Metachromatic leukodystrophy
Neuronal ceroid lipofuscinosis
Primary antiphospholipid antobidy syndrome
Gangliosidoses
Hallervorden-Spatz disease
Multiple sclerosis
Atlantoaxial sublaxation
Syringomyelia
Arnold-Chiari malformation
Congenital Klippel-Feil syndrome

Toxins

A number of uncommon toxins are capable of causing brain damage centered in the motor control region known as the basal ganglia. Dystonia may be one prominent feature experienced by people with these exposures, but it is extremely uncommon for "pure dystonia" to be seen in such patients. In other words, the vast majority of people exposed to toxins (for example, manganese, cyanide, 3-nitropropionicacid) have additional neurological problems associated with the dystonia. Possibly the most common feature in such patients is the presence of parkinsonism

Diagnosis

Many of the ascribed causes of secondary dystonia are based on historical information or subtle characteristics of the symptoms, and have no diagnostic, radiologic, serologic, or other pathologic trademark

Treatment

Oral medications are often the mainstay of treatment for secondary dystonia. Although there is no single drug that helps an overwhelming number of individuals, there are several that may be of benefit. These oral medications include levodopa, trihexyphenidyl, clonazepam, and baclofen (oral and intrathecal—especially for dystonia and spasticity). Medications may be taken in combination

Botulinum toxin injections may be used to treat specific body parts that may be affected, such as the neck, jaw, hands, or feet

Several surgical techniques may be appropriate for select individuals who do not respond to medications and botulinum toxin injections. These include ablative surgeries such as pallidotomy and thalamotomy, intrathecal baclofen, and deep brain stimulation

Drug-induced Dystonia

A large number of drugs are capable of causing dystonia. In most cases, people develop an acute dystonic reaction resulting after a one-time exposure. Symptoms may include intermittent spasmodic or sustained involuntary contractions of muscles in the face, neck, trunk, pelvis, and extremities. The symptoms are usually transient and may be treated successfully with medications such as Benadryl -diphenhydramine

Another type of drug-induced dystonia is called tardive dystonia. Tardive dystonia is a form of tardive dyskinesia, which includes involuntary movements that resemble multiple movement disorders. The term tardive means “late” to indicate that the condition occurs some time after drug exposure, and the terms dyskinesia and dystonia describe the types of movements involved. Tardive dyskinesias are neurologic syndromes caused by exposure to certain drugs, namely a class of medications called neuroleptics which are used to treat psychiatric disorders, some gastric conditions, and certain movement disorders. The amount of exposure to such drugs varies greatly among patients. Tardive dystonia and dyskinesias may also develop as a symptom of prolonged treatment with levodopa in some Parkinson's disease patients

Drugs belonging to this class of neuroleptics include (trade name listed in parenthesis): Acetohenazine (Tindal), amoxapine (Asendin), chlorpromazine (Thorazine), fluphenazine (Permitil, Prolixin), haloperidol (Haldol), loxapine (Loxitane, Daxolin), mesoridazine (Serentil), metaclopramide (Reglan), molinndone (Lindone, Moban), perphanzine (Trilafrom, Triavil), piperacetazine (Quide), prochlorperzine (Compazine, Combid), promazine (Sparine), promethazine (Phenagran), thiethylperazine (Torecan), thioridazine (Mellaril), thiothixene (Navane), trifluoperazine (Stelazine), triflupromazine (Vesprin), and trimeprazine -Temaril

Symptoms may develop after weeks or years of drug exposure. Both tardive dystonia and other tardive dyskinesias typically involve (but are not necessarily limited to) the muscles of the face. Symptoms may also include muscle spasms of the neck, trunk, and/or arms

The movements typical of tardive dystonia are generally slower and more sustained than other dyskinesias, though the presence of a dystonic tremor in opposition to the main dystonia movement may cause a more rapid appearance of movement. Dyskinesias are usually characterized by quick, jerking movements that may include grimacing, tongue protrusion, lip smacking, puckering, and eye blinking. The arms, legs, and trunk may also be involved. Movements of the fingers may appear as though the individual is playing an invisible guitar or piano

The frequency and pattern of movements may fluctuate. The predominant condition (for example if symptoms are mostly dystonic) will usually dictate the course of treatment

Terms used to describe drug-induced dystonia include: tardive dystonia; tardive dyskinesias; acute dystonic reaction

Treatment

The treatment of tardive dyskinesias will usually include a gradual withdrawal from the offending medication. If neuroleptics remain a crucial element of an individual's health, a class of newer, "atypical" neuroleptics (such as clozapine, olanzapine, and quetiapine) may be a suitable substitute. Anticholinergics (such as trihexyphenidyl and benztropine) and muscle relaxers used to treat other forms of dystonia may also be helpful. Baclofen and clonazepam are also sometimes used to treat tardive dystonia. Botulinum toxin injections to a particular muscle group are an additional option for treatment

Like the treatment of tardive dystonia, the treatment of other tardive dyskinesias is very specific to the individual patient. The first step may be to gradually minimize or discontinue the use of the offending medication. In many cases, discontinuing or lowering the dose of the causative drug will ease symptoms. Substitute drugs may be recommended to replace neuroleptics. In some cases, the symptoms will persist after use of the drug has been terminated but with careful management, symptoms may improve and/or disappear with time. Other drugs such as benzodiazepines, adrenergic antagonists, and dopamine agonists may also be beneficial

The National Institutes of Neurological Disorders and Stroke conducts and supports a broad range of research on movement disorders including tardive dystonias and dyskinesias. The National Institute of Mental Health is similarly committed to preventing further cases of drug-induced movement disorders in individuals who benefit from neuroleptic treatment

Trauma-induced Dystonia

Dystonia symptoms may follow trauma to the head, and/or trauma to a specific body area

Dystonia symptoms following head trauma often affect the side of the body which is opposite to the side of the brain injured by the trauma. Examples of peripheral injury include oromandibular dystonia following dental procedures, blepharospasm following surgery or injury to the eyes, and cervical dystonia following whiplash or other neck injury. Symptoms of trauma-induced dystonia may be paroxysmal (meaning that they occur in episodes or “attacks” of symptoms), not respond to sensory tricks, and persist during sleep

Brain trauma will often manifest in observable lesions in the brain that can be assessed by neuroimaging techniques. Onset of symptoms may be delayed by several months or years after trauma
Clues to whether dystonia to a specific body part can be attributed peripheral injury to that body area include

The injury is severe enough to cause local symptoms that persist for at least two weeks or require medical evaluation within two weeks
The onset of the movement disorder occurs within a few days or months (up to a year) after the injury
The symptoms relate anatomically to the injured part of the body

In addition to dystonia, movement disorders that are believed to result from brain and peripheral trauma include parkinsonism, tremors, chorea, myolconus, tics, and hemifacial or hemimasticatory spasm

Terms used to describe trauma-induced dystonia include: injury-induced, peripherally-induced (when trauma is to affected body area, not brain), post-traumatic dystonia, causalgia-dystonia syndrome, reflex sympathetic dystrophy with dystonia

Diagnosis

Many of the ascribed causes of secondary dystonia are based on historical information or subtle characteristics of the symptoms, and have no diagnostic, radiologic, serologic, or other pathologic trademark

Treatment

Oral medications are often the mainstay of treatment for secondary dystonia. Although there is no single drug that helps an overwhelming number of individuals, there are several that may be of benefit. These oral medications include levodopa, trihexyphenidyl, clonazepam, and baclofen (oral and intrathecal—especially for dystonia and spasticity). Medications may be taken in combination

Botulinum toxin injections may be used to treat specific body parts that may be affected, such as the neck, jaw, hands, or feet

Several surgical techniques may be appropriate for select individuals who do not respond to medications and botulinum toxin injections. These include ablative surgeries such as pallidotomy and thalamotomy, intrathecal baclofen, and deep brain stimulation

Secondary dystonias

The various forms of dystonia can be divided into two broad groups: primary dystonias and secondary dystonias. Primary dystonias are genetic (or believed to be genetic) in origin, whereas secondary dystonias result from apparent outside factors and can be attributed to a specific cause such as exposure to certain medications, trauma, toxins, infections, or stroke

Secondary dystonia is dystonia that develops mainly as the result of environmental factors that provide insult to the brain. Spinal cord, head, and peripheral injury are also recognized contributors to dystonia. Other examples of secondary dystonias include levodopa-induced dystonia in the treatment of parkinsonism; acute and tardive dystonia due to specific drugs such as dopamine receptor blocking agents; and dystonias associated with cerebral palsy, cerebral hypoxia, cerebrovascular disease, cerebral infections and postinfectious states, stroke, encephalitis, brain tumor, and toxins such as manganese, cyanide, and 3-nitroproprionic acid

Many secondary dystonias are dystonias associated with approximately 50 neurological and metabolic diseases. Many of these diseases are genetic. This category includes diseases such as corticobasal degeneration, pantothenate kinase deficiency (aka Hallorvorden-Spatz), Huntington’s disease, Wilson’s disease, Leigh’s disease, and juvenile parkinsonism

A number of secondary dystonias do not present as pure dystonia, but with a mixture of other neurologic features, such as parkinsonian features like slowness of movement (bradykinesia) and rigidity

Causes of Secondary Dystonia

It is well established that dystonia is brought about by secondary causes such as drug exposure, head and peripheral trauma, and other disorders. Studies also suggest that insults such as trauma may trigger or exacerbate symptoms in individuals who have a genetic predisposition to dystonia. Research continues to better understand these various manifestations of dystonia

Diagnosis of Secondary Dystonia

Many of the ascribed causes of secondary dystonia are based on historical information or subtle characteristics of the symptoms, and have no diagnostic, radiologic, serologic, or other pathologic trademark


Treatment of Secondary Dystonia

Treatment for secondary dystonias that are attributed additional neurological or metabolic disorders is usually directed by the specific requirements of that disorder

Oral medications are often the mainstay of treatment for secondary dystonia. Although there is no single drug that helps an overwhelming number of individuals, there are several that may be of benefit. These oral medications include levodopa, trihexyphenidyl, clonazepam, and baclofen (oral and intrathecal—especially for dystonia and spasticity). Medications may be taken in combination

Botulinum toxin injections may be used to treat specific body parts that may be affected, such as the neck, jaw, hands, or feet

Several surgical techniques may be appropriate for select individuals who do not respond to medications and botulinum toxin injections. These may include ablative surgeries such as pallidotomy and thalamotomy, intrathecal baclofen, and deep brain stimulation. The specific characteristics of the disease or condition that is causing the dystonia may preclude an individual from selects surgical procedures for dystonia, or present alternative surgical options

Complementary therapies may be explored, particularly physical therapy, aquatic therapy, and regular relaxation practices

X-linked Dystonia-parkinsonism

X-linked dystonia-parkinsonism (XDP) is a genetic form of dystonia found almost entirely among males of Filipino descent

Terms used to describe X-linked dystonia-parkinsonism include: XDP, Lubag

Symptoms

XDP is a recessive disorder affecting males almost exclusively. It is characterized by both dystonia and parkinsonism including signs and symptoms such as slow movement (bradykinesia), tremor, rigidity, and a loss of postural reflexes. With disease progression, the dystonia usually becomes generalized. In some patients, signs of parkinsonism may accompany, precede, or "replace" symptoms of dystonia. The disease is transmitted through unaffected females, so-called “carriers.” A few cases have been described in which females who carry a copy of the disease gene may manifest mild symptoms of the disorder, such as relatively mild dystonia or chorea

XDP is a primarily adult-onset disease starting at age 35 on average with a wide span of onset ranging from late adolescence to the early sixties

Cause

XDP occurs throughout the Philippines but is also diagnosed in the US and Canada in people of Filipino descent. All known cases of XDP originate from one common ancestor. The gene associated with XDP, called the DYT3 gene, was discovered in 2003

Diagnosis

Diagnosis of XDP is based on patient history and neurological examination. Positron emission tomography (PET scans) and olfactory testing may be prescribed

Treatment

Treatment for XDP involves using medications to address dystonia, parkinsonism, or both. Parkinsonism symptoms may slightly improve with levodopa or dopamine agonist therapy, and dystonic features may respond to anticholinergics or benzodiazepines such as clonazepam (Klonopin®). Zolpidem and tetrabenazine may be used if dystonia symptoms become multifocal or generalized. Botulinum toxin injections may improve focal dystonias

Rapid-onset dystonia-parkinsonism

Rapid-onset dystonia Parkinsonism (RDP), a hereditary form of dystonia, is characterized by the abrupt onset of slowness of movement (parkinsonism) and dystonic symptoms

Terms used to describe rapid-onset dystonia-parkinsonism include: DRP, DYT12 dystonia

Symptoms

The classic features of RDP include involuntary dystonic spasms in the limbs, prominent involvement of the speech and swallowing muscles, slowness of movement, and poor balance. Onset of the combined dystonic and parkinsonian symptoms can be sudden, occurring over hours to days. Some people experience seizures. RDP often follows a fever, prolonged exposure to heat or exercise, childbirth, or emotional stress. Symptoms usually stabilize in less than four weeks, after which, it is reported, there is little progression and symptoms may improve slightly. RDP usually occurs in adolescence or young adulthood (age range 15 to 45), but onset of mild dystonia-parkinsonism has been reported in individuals up to the age of 58

Cause

Several mutations in the ATP1A3 gene (also called the DYT5 gene) are associated with RDP and inherited autosomal dominantly with reduced penetrance. This means that only one parents needs to have the gene mutation for a child to inherit the disease, but not everyone who inherits the gene mutation will develop symptoms

Diagnosis

Diagnosis is based on neurological examination. A family history is required to distinguish the mild limb dystonia of RDP from early-onset dystonia

Treatment

Treatment options for RDP at this time is limited and must be customized to the individual’s unique needs. Levodopa/carbidopa or dopamine agonists may provide some mild improvement in some affected individuals. Individuals may benefit from non-drug approaches such as physical therapy and complementary therapies such as regular relaxation practices

Paroxysmal dystonia and dyskinesias

Paroxysmal dyskinesias (PD) are episodic movement disorders in which abnormal movements are present only during attacks. The term paroxysmal indicates that symptoms are noticeable only at certain times. The term dyskinesia broadly refers to movements of the body that are involuntary. Between attacks most people are generally neurologically normal, and there is no loss of consciousness during the attacks

Identifying the types of movements associated with PD is complicated. These movements may be dystonic, choreic, ballistic, or a combination. An individual may show one specific type of movement or a combination of movements

Dystonic movements are typically patterned and repetitive, causing twisting movements and abnormal postures. Dystonia occurs when opposing muscles are contracting simultaneously. The activation of these muscles may "overflow" to other muscle groups unintentionally

Ballistic movements are more severe limb movements that involve portions of the limb such as the shoulder and elbow, and hip and knee

Choreic movements may be described as brief, rapid, involuntary movements that serve no purpose. When mild, choreic movements may resemble fidgeting

Athetoid movements are slower and more continuous than chorea with a writhing quality. They especially involve the hands and may also affect the torso and other parts of the body

When chorea and athetosis occur simultaneously, the term choreoathetosis has been used. Choreoathetosis may coexist with dystonia or occur independently

Terms used to describe paroxysmal dystonia include: paroxysmal dyskinesias. Forms of paroxysmal dyskinesias may be referred to as paroxysmal kinesigenic dyskinesia, DYT10 dystonia; paroxysmal nonkinesigenic dyskinesia, paroxysmal choreoathetosis paroxysmal dystonic choreoathetosis, DYT8 dystonia; paroxysmal hypnogenic dyskinesia, paroxysmal exertion-induced dyskinesia

Note: Paroxysmal dyskinesias are sometimes classified under the dystonia umbrella, and sometimes considered a separate category of movement disorders. Paroxysmal hypnogenic dyskinesias may be classified as a form of epilepsy, not dystonia

Symptoms

History and (ideally) video documentation of the attacks are important tools toward diagnosing PD. The work-up for diagnosing paroxysmal dyskinesias may also include an electroencephalogram (a test to measure brain waves), brain imaging (such as MRI or CT scan), blood chemistries, and calcium tests

The paroxysmal dyskinesias are currently classified into four types

Paroxysmal kinesigenic (action-induced) dyskinesia - PKD
Paroxysmal non kinesigenic dyskinesia - PNKD
Paroxysmal exertion-induced dyskinesia - PED
Paroxysmal hypnogenic (nocturnal) dyskinesia - PHD

Note: Previous classifications included "paroxysmal choreoathetosis" and/or "paroxysmal dystonic choreoathetosis." Due to the variety of dyskinesias observed in PD, "paroxysmal dyskinesia" is a commonly used term

Paroxysmal Kinesigenic Dyskinesia (PKD) may be inherited, meaning that it is passed genetically from a parent or ancestor. Inherited PKD is an autosomal dominant disorder. (The term "autosomal dominant" indicates that only one parent need have the PKD gene in order for a child to inherit the disorder.) The age of onset in inherited cases of PKD is from five to fifteen years. PKD may also occur sporadically, meaning that symptoms manifest without a family history. The age of onset in sporadic cases is variable. In both cases the attacks, which may occur up to 100 times per day, are often precipitated by a startle, a sudden movement, a particular movement, or other factors. The attacks are usually short, lasting seconds or minutes. The symptoms may be preceded by an unusual sensation in the limbs and may be limited to one side of the body or a single limb. Most people with PKD have dystonia, and some have a combination of chorea and dystonia or ballism

Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is also inherited in an autosomal dominant fashion. The age of onset is usually between early childhood and early adulthood. The frequency of attacks is less than that of PKD, averaging between three per day to two per year. Fatigue, alcohol, caffeine, excitement, and other factors may trigger symptoms. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. A person affected by PNKD may not be able to communicate during an attack but remains conscious and continues to breathe normally

Paroxysmal Exertion-induced Dyskinesia (PED) . Both inherited and sporadic cases of PED have been reported. The attacks are triggered by prolonged exercise and may last between five to thirty minutes. The attacks may occur once a day or twice a month

Paroxysmal Hypnogenic Dyskinesia (PHD) is characterized by attacks of dystonia, chorea, or ballism during non-REM sleep. These attacks may occur between five times a night to five times a year and usually last between thirty to forty-five seconds. The attacks may also sometimes occur during the day. PHD is probably a broad condition consisting of a several different types of episodes and symptoms

A miscellaneous episodic dystonic condition is benign paroxysmal torticollis of infancy, which typically begins in the few months after birth. These attacks may occur once every two or three weeks and last from hours to days. Typically, the head and/or trunk tilt to one or the other side. These symptoms are often treated with specific physical therapy and disappear when the child is between one and five years old

Cause

As is the case with most dystonias, paroxysmal dyskinesias are generally attributed to dysfunction in the area of the brain called the basal ganglia. However, much has yet to be learned about how and why PD occurs. Some regard PKD as a form of epilepsy involving specific parts of the brain (i.e., the basal ganglia and thalamus). There is a growing resource of evidence that suggests that PKD may in fact belong to a group of disorders similar to the inherited episodic ataxias, which are known to be associated with disorders of ion-channels. -Ion channel genes are responsible for the proteins that regulate the passage of salt atoms into and out of cells

Although the exact origin may not be known, most cases of PD are inherited or sporadic. A gene for PNKD has been located on chromosome 2q, and a gene for PKD on chromosome 16

Cases of PD that are not considered inherited or sporadic and are associated with specific factors and conditions are classified as secondary

Secondary causes of PKD include multiple sclerosis, cerebral palsy, metabolic disorders, physical trauma, cerebrovascular disease, and miscellaneous conditions including supranuclear palsy and AIDS. Most conditions associated with PKD may also be associated with PNKD. A few cases of secondary PED and PHD have been reported

Paroxysmal dyskinesias have also been associated with encephalitis and injury to the brain due to stroke and tumors. Drugs such as cocaine and dopamine blocking agents may also induce dyskinesias

In extremely rare cases, paroxysmal dyskinesias may be a manifestation of a psychiatric disorder. Only a qualified movement disorder and/or conversion disorder expert (preferably a team of multiple specialists that includes both) should make such a diagnosis. Unfortunately, authentic cases of PD have often been inappropriately dismissed as "psychogenic." An inaccurate psychiatric diagnosis not only causes unnecessary suffering to the person affected by PD, but it may also preclude appropriate treatment options

Treatment

There is no cure for dystonia or PD at this time, but treatments are available. These treatments aim to reduce muscle spasms, pain, and disturbed posture and function

The current poor understanding of the pathophysiology and biochemistry of PD often makes establishing a satisfactory treatment plan difficult. Treatment needs to be tailored to the individual, and it may be necessary to try several options before symptoms are diminished or alleviated. Patience on the part of both physician and patient is important

Medications

People with PKD generally respond well to anticonvulsant agents such as phenytoin, primidone, valporate, carbamazepine, phenobarbital, and diazepam. Other drugs that may be helpful include anticholinergics, levodopa, flunarizine, and tetrabenazine. Haloperidol has given inconsistent results

PNKD may respond to clonazepam, haloperidol, alternate day oxazepam, and anticholinergics. Anticonvulsants are ineffective in most cases. Trying to avoid triggering factors such as alcohol and caffeine is important

There are a few cases of PED that improve with levodopa and acetazolamide, but drug treatment is ineffective for the most part. Avoidance of prolonged exercise may reduce frequency of attacks

People who experience short attacks of PHD may respond to anticonvulsant drugs, including carbamazepine and phenytoin. Those who experience longer attacks may respond to haloperidol or acetazolamide

Secondary PD associated with multiple sclerosis responds well to anticonvulsants. Acetazolamide may be a helpful alternative or adjunct agent to anticonvulsants. PD due to head injury may improve with anticonvulsant medications or a combination of anticonvulsants and trihexyphenidyl. Underlying conditions need to be addressed in other cases of secondary PD

The intermittent and transient nature of paroxysmal dyskinesia generally precludes the use of therapies such as botulinum toxin injections and surgery