قبل الحادث بشهر 1998

الأربعاء، 13 أكتوبر، 2010

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