36. Possible causes or links

Possible Causes or Links

A. Context

People with dystonia often express concern about what has caused their condition. Many hypotheses abound  including:

brain injury, trauma, stroke

oxygen deprivation

virus, infection


poisoning, environmental toxin

genetic predisposition


stress, circumstance, high pressure

personality, perfectionism, tendency to not express feeling

overuse of that muscle or brain pathway

Some wonder whether any of these alone may not result in dystonia but creates a predisposition so that with two or three factors together, dystonia is more likely. The surveys may be of some use seeing if there are patterns.

Patients usually do not understand brain function but care about the technical aspects they might understand.   It may be that  study of dystonia, by showing when something goes wrong, may help clarify what usually goes right.  In that way studies of dystonia may be useful for understanding any movement disorder or any movement.

B. Background

1900 – Sigmund Freud postulated that many disorders trace to

            emotional conflicts from childhood.  Theories developed that dystonia

            is twisting away from stress or that forced eye closure is desire to

            close one’s eyes to the world.

1902 – some people thought that it was just an invented disorder related

            to hysteria and call these ‘hysterical spasms’

1911 – Ziehen thinks that the convulsive actions that increase

            when a person tries to move voluntarily are not


1970 – Dr. David Marsden in the UK  found much evidence of dystonia having an

            organic cause and not being a psychiatric disorder. He did

            electrophysiological studies and said that dystonia is

            not a type of neurosis.  He studied in particular jaw dystonia and

            eye dystonia – blepharospasm and dubs it Brueghel’s syndrome after

            the 16 century painter’s works.

1970s- the crisis of negative side effects of some medication for depression

            and psychosis leading to dystonia is addressed and newer antipsychotics

            are over time developed. The second generation pills have fewer but not

            negligible risks of also leading to dystonia

1980s –  when early neuroleptic drugs were introduced some who took them

            over a long term developed dystonia

1989 – researchers sequenced a DYT1 gene and found a protein named torsin A

            that seem involved in dystonia and that can be tested prenatally.

            The DYTI gene is implicated in many cases of early onset generalized dystonia             and  research shows abnormal probability information in the

            firing of sensorimotor synaptic connections in the brain.

1990s- the second generation of antipsychotic pills for those with severe

            depression or psychosis becomes more widespread in the US.

            These pills have a 6 to 12 fold reduction in their risk of causing

            dystonia. However some patients still develop dystonia when on them

            for long periods of time. Risk is highest for older women

            though the mechanism is not understood. Though 60-70 % of those

            who develop dystonia when using such pills have only a mild

            condition, it is often debilitating.  Up to 3% of those

            on such pills develop severe forms of dystonia.

1993 – the gene for dopa-responsive dystonia is mapped to chromosome

            14 and the next year the actual gene involved is identified.

1997 – researchers found a protein they named torsinA, on the DYT1 gene

            that seems different for those with early onset generalized dystonia

            and that seems to have a role in how the body recovers

            from heat, traumatic injury or chemical poisoning. They also find

            a DYT1 mutation where three letters of the nucleotide

            genetic code are deleted in people with early onset generalized

            dystonia. This 3 part deletion got named the GAG deletion

            and it seems to result  in loss of glutamic acid that is            normally

            found in the torsinA protein. Somehow this seems to interrupt

            how the neurons can communicate with each other to movement

2007- genes have been found on DYT gene at 15 points linked to various

            forms of dystonia

2007- genes have been found on DYT gene at 15 points linked to various

            forms of dystonia

2020 – Dr. Pravin Khemani of the Swedish Neurologist Institute in Seattle, Washington,             spoke on an international dystonia webinar outlining recent research. He says             dystonia is now thought to be a circuit disorder, and that several areas of the brain     seem implicated- basal ganglia, sensory and motor cortex, putamen, thalamus, and             cerebellum. 150 genetic links have been identified for the various forms of           
            inherited dystonia.

C. Areas of study

The general public has access to some medical information through textbooks and courses but the most common resource patients report using is the Internet and each other. Here is a brief summary of the areas patients often study as they wonder about causes and the mechanics of dystonia.

1 muscles

Experience of dystonia is usually in a muscle, even in vocal cord dystonia, the muscles of the vocal apparatus.  The body has over 600 muscles and not all seem involved in dystonia.

types of muscles

The body has 3 types of muscles – smooth, cardiac and skeletal.

a. smooth muscles operate involuntarily.

-The stomach muscles contract and relax to move food through the body. If a person has to vomit, the muscles enable moving the food back up.

-The bladder has smooth muscles which relax to help a person hold urine and then contract to push the urine out.

-The muscles of a uterus contract to help push the baby out as she gives birth

-Muscles in the eyes are smooth muscles and help the eyes focus

These do not seem implicated in dystonia.

b. cardiac muscles, muscles in the heart, also operate involuntarily.

-These are thick muscles that contract to pump blood out and send it to the rest of the body and that relax to let blood back in from the rest of the body.
The cardiac muscles also do not seem implicated in dystonia.

c. skeletal

These muscles consist of light and dark fibres that make them look striped so are sometimes called striated muscles. They are voluntary muscles and they are the ones often affected by dystonia.

-The skeletal muscles usually are attached to a bone at one end, stretch across the joint where two bones meet and then attach to another bone.

-these muscles can be very large as in the calf or thigh or very small, in the tongue.

-muscles for blinking are sometimes affected by dystonia.  Patients report that the muscles seem stuck in a position, usually clamped shut.

-facial muscles – do not attach directly to bone but do attach under the skin. Motions of the cheek and jaw enable smiling, frowning, chewing, speaking. These muscles seem implicated in dystonia with some patients experiencing involuntarily grimacing, or the mouth tending to be stuck open or to clamp shut.   Facial muscles seem involved in some sensory tricks, where a person to lift the head may find they are opening the mouth to assist, or that they are scrunching their eyes close or flaring their nostrils. These interactions may merit study.

-tongue muscles are only attached to the body at one end. They enable the person to talk and chew food. Patients sometimes report reduced control of the tongue during dystonia so it is more difficult to sweep the tongue to clean the teeth and more difficult to move some food around in the mouth.  However the tongue does not seem to be stuck in a position, unlike in neck dystonia.

-muscles of the vocal cords are often involved in dystonia. Researchers have identified two types of dystonia, one where the vocal cords are stuck open and the other where they are stuck closed. Both types affect speech.

-muscles that govern swallowing are sometimes implicated in dystonia. Some patients report that their body seems less efficient at processing saliva, that it pools and they tend to drool. Some report that the muscles for swallowing need careful attention or even spitting out to be reminded how to swallow. What some report is lower efficiency of getting food fully down while others report just a delay in achieving swallowing.

-neck and top of back  muscles enable the person to hold the head erect and to turn it back and forth or up and down. These muscles are often implicated in dystonia though the positions patients experience as favored, the ones they seem stuck in vary widely. Some tilt left, some right, some looking way up, some looking down, and some have the chin stuck jutting out while for others it pulls in to the chest. The muscles are definitely involved in dystonia but the presentation differences may be useful to study.

-the pectoral muscles on each side of the upper chest often change during puberty and enable activities requiring strength of lifting.  They do not often seem implicated in dystonia though this could be studied

-back muscles help keep the body erect and enable walking, bending and lifting. The back muscles seem affected in particular for those with generalized dystonia and some report that the body tends to tilt or curl, and have difficulty remaining fully erect. Some with dystonia report back spasms though their relationship to dystonia is not clear.

-shoulder, arm, hand and finger muscles – are often implicated in dystonia, especially muscles of the fingers.  The precise nature of what muscles are affected and which ones are not may be useful to study to see if overuse or weakness of a muscle is a problem or if dystonia seeks out some patterns not others.  Progression of dystonia up or down arms or legs, and whether it moves to the other side of the body may be useful to study.

The deltoid muscles of the shoulder help move the shoulders in a wide range of directions, one of the widest of all the muscles  Shrugging shoulders and swinging a golf club are enabled by this muscle. Baseball players and golfers who develop dystonia likely are affected mostly by dystonia here.

The biceps are muscles at the front of the upper arm. The two heads of the muscle both start at the shoulder blade and attach down just below the elbow. They allow bringing the forearm toward the body, and turning the palm to face upward.

The triceps are at the back of the upper arm. They have 3 parts, one which starts at the back of the shoulder blade and two others that start at the side and back of the upper arm bone. They all attach down at the back of the elbow. They allow a person to move the forearm away from the body, to keep the shoulder steady as they lift something and to move the arm back behind the body. The biceps and triceps work as a pair, one stretching while the other contracts, to enable movements. They are said to be antagonist or opposing muscles.  They are sometimes implicated in dystonia but it seems less often.

-muscles of wrist, hand and fingers – these seem often implicated in dystonia, particularly muscles of one or several fingers.

-calf and thigh muscles – enable the person to walk and to push and lift objects

Patients report these muscles sometimes affected in dystonia .There seems to be a difference between patients who report actual problems with these muscles tightening and those who experience what seems to be normal muscle function but delay in response when a person tries to walk. These effects could be studied.

Muscle movement

-electrical impulses from the brain go to the motor neurons when a person wants  to move

-actin works against myosin to make the muscle contract

-with the heart and smooth muscles, there is an internal pacemaker to make the contractions happen regularly so the person does not have to consciously make the heart beat.

The smooth or involuntary muscles that regulate function of the stomach, esophagus, intestines, lungs, bladder, also do not seem affected by dystonia.

The skeletal muscles operate in pairs.

A muscle can only do two things  – tighten or not tighten. It can pull or not pull. It cannot push.

-the muscle can be relaxed, at rest, not tightened

-the muscle can contract, be tightened, pull.

A flexed muscle is bent. The angle between it and the body is smaller so the elbow bends, the knee bends, the head bends, the wrist bends, the fingers bend.

The other motion is to stretch out, to elongate. The person can stretch their fingers out, stretch their hands out, stretch their  arms, stand straight and stretch their legs.

To get the muscle to bend a message is sent from the brain to activate that muscles. This also means that the muscle on the other side has to stretch. To tilt your head left, the left side muscles of the neck bend but the ones of the right have to stretch. This dual involvement of pairs of muscles bears study for dystonia because even though the neck may for example tilt left, the muscles on the right that are thus overstretched also are experiencing an effect of dystonia.

Some research suggests that dystonia is inability of the body to maintain the neutral position.

If a person’s finger always bends and refuses to stretch out, it is locked in a message to bend.. The message to tighten could be seen as overactive or it may be that the message to relax is not registering. If a person’s toe sticks straight up and won’t bend or the arms flail out and won’t stay in close, the problem seems that the failure to attain rest mode is by stretching, not bending..

Researcher suggests that muscles are stiff and have a resting length. They resist being stretched overly or bent overly. . When fully relaxed, a joint can still be flexed. Most people do not at rest hold their fingers either tightly curled or straight out, but slightly bent  Dystonia seems to deviate from that neutral positio.

Researchers also say that tonic muscle tone requires that people have a low level of contraction to keep tension on our joints. People have to stay somewhat engaged in supporting our bodies or they would just collapse.  Dystonia seems an overengagement of some muscles.

Olympic athlete rowers build up lactic acid in their muscles after long periods of rowing. At rest the body is always making lactate to help combine nutrients in the blood with oxygen to give energy. When the body is exercising intensely this lactate gets used up faster than  it gets replenished so there is an emergency supply in the form of lactic acid. This acid which is ten times more acidic than acetic does not require oxygen to produce energy. However eventually even if cannot create enough energy and the body needs rest. If people with dystonic muscles constantly tense might be considered to have a muscle always being exercised, the level of lactic acid may be  interesting to test.  In 1808 Berzelius discovered that lactic acid is produced in muscles during exertion.  There are recent studies also that suggest lactate not glucose is what fuels brain neurons.  The link between lactic acid, brain function, neurons and dystonia may be useful to study.

When people die their muscle cells stop producing ATP, an energy molecule that usually helps muscles relax.  On death the contractile proteins break down,  body then does not contract them, and the body goes limp.  The body of a person who has died has a period of extreme stiffness, rigor mortis, which dissipates after about 40 hours. The stiffening of muscles on their own is not dystonia. However the mechanism of stiffness itself may be useful to study . Some have wondered if dystonia involves some cell death.

There are hypotheses that the problem with dystonia is from the brain messaging. However there is also a hypothesis that the problem is in abnormal muscle spindles.

Dystonia is not usually described as a problem with joints but a problem with the muscles. The experience of patients however seems to be both. The muscles of the shoulder seem often affected in neck or arm dystonia and may click and go problematically nearly out of socket, The phenomenon of joints cracking with dystonia may merit study. The sound of muscles cracking in healthy peopl ehas been found to be due to nitrogen bubbles being released due to a rapid change of pressure in the joint.

Researchers study how dystonia progresses to see if there are patterns. Does it move down a muscle or jump from joint to joint? Does it move from the body core outwards to muscles farther and farther away from the body- eg. from neck to finger – or does it start at the far away point (distal) and move closer (proximal)?   These patterns may reveal whether dystonia attacks weaker areas or areas linked in the body or areas linked in the brain.

2 The brain

Dystonia affects muscles but also  the brain which directs the muscles.

Reearchers seem to agree that dystonia is an engagement of the brain outside a normal range, probably in the sensory motor system. There is excessive command to the muscles and or an extreme or abnormal response back from the muscles. The message to the muscle is a  motor message and the message back from the muscles is a sensory message. .

In mammals nerves that control skeletal muscles involve the primary motor neuron cortex of the brain,the cerebral cortex, and are routed through the basal ganglia. The cerebellum modifies the message as needed. This complex system somehow seems disrupted in dystonia and it is often suggested that the key area of problem is the basal ganglia. However more recent theories suggest more areas of the brain are involved in the problem.

The areas of the brain thought to be involved in movement include

-the motor cortex

            -area 4 – the precentral gyrus

                        Dr. Wilder Penfield found that stimulation to these areas

                        trigged very localized muscle contractions

                        -these contractions happen on the contralateral side

                        of the body

                        -it was possible to map the brain to see the areas involved

                        for various stimulations

            -area 6- a narrow strip in front of the primary motor cortex

                        -it has two areas

                                    the supplementary motor area  guides body movements

                                                integrating sensory information

                                                -it controls the muscles closest to the body’s

                                                main axis

                                    the premotor cortex

                                                -it is involved in planning complex movements

                                                – it is involved in coordinating motions involving

                                                both hands.

the neocortex

            for control of voluntary movement

the prefrontal cortex

            for voluntary movement

the posterior pariental cortex

             for voluntary movement

the basal ganglia –

            -it links messages from the cortex frontal, prefrontal and

            parietal areas

            -it seems to channel information to the supplementary motor area to help

            facilitate movement.

            -it seems to act as a filter to block some movements that are not desired

            -it also has areas that seem to govern memorizing, cognition and emotion.

            the caudate nucleus

            the putamen

            the globus pallidues

            the subthalamic nuclearu

the substantia nigra

            in the midbrain

            an area that has many connections to the basal ganlgia

the cerebellun

            -it seems involved in learning how to coordinate body parts

            -it stores learned movement sequences

            -it helps fine tune movements

            -it coordinates movements produced elsewhere in the brain

            -it integrates all of this movement information to enable smooth


            -The cerebellum has two hemispheres

                        the cerebellar vermix it seems to help maintain posture

                        the hemispheres seem to affect movement in the arms and legs

            The cerebellum is believed to also be involved in processing

                        sensory information

the brainstem

            the pons – axons from the cortex areas porject into the pons

            nuceli and neurons of the pons project heir axons into the


            This creates a dense nerve bundle of 20 million axons

Many clinical studies look at the brain of those with dystonia. There is also  a brain bank collecting brains of deceased patients to study changes.  Areas of study include:

-what area of the brain is active during some motions and if that is a larger area, or a precisely focused area or a diffused area for those with dystonia

-blood flow to the areas of the brain involved in motion

-areas of the brain governing each motion and the size of each relative to use. Cab drivers have a larger involvement in brain maps from the area  helps register spatial relationships. Musicians have a larger area for hand motion. The brain seems to be use more sections in well used areas

of high use and precise demand. 

-whether brain area for a motion affected a nearby brain area. Is some area so large it is pushing against another and hampering function? Is a sensory trick based on two areas of the brain being near each other and firing in sync even though in the body those two areas are not near each other?

-neurotransmitter levels in the brain and whether they differ for those with dystonia. Levels of a given neurotransmitter have been found to be high in some brain areas of those with dystonia  and low in other areas. This inequality has implications for the effect of medication to adjust those levels.

3. the nervous system

For most movements there is a message to one muscle to bend and to the opposing muscle to stretch.. To tilt the head left, the right side has to stretch. To bend the head forward the muscles at the back have to stretch.  It may be that the flaw of message is to the muscles that are hedl so tightly contacted. However research suggests that with dystonia  the flaw may be in the message to the antagonist muscle, a message that is  overactive. A person whose head tilts left may be seen  then as not having a flaw of the tilt but  a flaw of the right side stretch which is not releasing its stretch..  The signal from the brain may be too broad to control the disinhibition signal. In some ways this  seems like the command to stand down is not heard and the muscle simply remains on alert too long.

The nervous system tends to keep the network in inhibition state. To get a muscle to move the motor program gets disinhibited. Neurons are moved into a tonically active mode The muscle is told to no longer be at rest, is facilitated, made tonically active.

 Some researchers now look at dystonia is a sensory disease with the flaw not in the message from the brain to the muscle, but in the message back from the muscle to the brain.

One area of possible study is a third message back from the brain. The brain sends instruction to the muscle to move, the muscle does not do this quite as told and sends back its message of an slightly inappropriate response and the brain sends back a correction message. This loop suggests that the body tries constantly to fix problems but somewhere along the line either the brain instruction is flawed or the response is flawed.

Patients experience tremor differently with dystonia. The tremor of Parkinson’s diases is usually a ‘resting tremor’ and always present. The tremor in those with essential tremor happens most when the person starts to move so and not so much when they are at rest.. Some patients report that with dystonia there are both types of tremor and this bears study.

Fatigue  can lead to tremor in healthy people uch as when they lift a heavy weight for a long time. People with dystonia report that fatigue also make the dystonia tremor worse.Shivering is not physically the same pathway as tremor. However the tingles that patients often report are apparently a mystery worth studying.

Dystonia has often been called a problem of involuntary movement, as if the patient is not choosing the motions the body makes. However many patients report theexperience more of an unwanted pressure, not necessarily causing erratic movement. Those with neck dystonia describe pressure to tilt the head and then to have it lock there. This seems to some a  problem not of movement but of position.  The dystonia happens when they are not moving at all. One form of dystonia is called fixed dystonia but the mechanics of when the dystonia is felt merits study.

Some have also questioned the term ‘involuntary ‘given that the person’s experience is often described as a lack of control over their movement. However they have not fully lost ability o move and their reports are of near constant effort to resist the dystonia pressure and try to still function. So the dystonia may present itself to the observer as if it is just an odd tilt but the patient is experiencing it very actively as a pressure to tilt  plus an effort to not tilt. The oddity of gait of some people with dystonia similarly seems for the patient to be a blend of voluntary response to unwanted other pressures.

Reflexes seem affected for those with dystonia. Many report that their startle reflex is very strong. They may hear a dog bark and jump quite dramatically, way out of proportion to the actual need to jump or even their of concern about the dog barking. The body seems to overreact, overstartle.  It may be that there is a middle ground between voluntary and involuntary that may be not working normally with dystonia

A  person breathes naturally without having to think about it. So it is involuntary. However a person can also hold their breath for a time, which is voluntary, but only for so long after which point the person gasps for air and the involuntary takes over. With dystonia, there does seem to be a conscious effort going on to resist an involuntary event.

When people shift their weight unconsciously as they stand this seems also in the grey area, where they may not be planning precisely how to move but they are able to stand very still and not shift weight if they are told to. It seems that the body naturally makes some motions to avoid pressure sores or pain from being in a position for too long. These motions seem to be involuntary reflexes to  shift position but also seem controllable voluntarily.

People with dystonia often report problems sleeping. This phenomenon may due to the fact that  some body positions lead to more pain or start tremors . Normally people shift body position a few times as they sleep. With dystonia that natural shift, subconsciou , just for comfort, seems not  as easy . Each new position may wake the person and they may find that they tend to sleep in one position more intentionally. Some report less movement in the night while others  report that they discover sometimes that they have kicked so hard they broke a bone, or that they have bitten their tongue so hard while they slept that it bled. Some wake in the same position precisely that they finally fell asleep in, because no other positions were comfortable. Others report that the position they were able to find that was partly comfortable was an odd position, such as one arm cupped over head to hold it to one side. When the body senses an object in its environment, eg. an area of the bed that is sharp or cold, a message is sent back to the brain about it, and the brain gives the command to move. Some studies suggest that such nerve messages do not go all the way back to the brain normally but that there is a mechanism within the nerves in the spine to make those adjustments on their own. With dystonia this automatic adjustment may be suppressed due to the pain of relocation. This may bear study.

4. muscle memory

.A person whose head tilts left for months may find it nearly impossible to look right or  to tilt the head  to the right without great pain. Often the can do so only for  a few seconds.  Exercise is often recommended to strengthen the muscle  and yet patients report that the exercising does not seem to address the brain message to still have dystonia and for the muscle to be tense.

 The idea that the brain gets use used to some motions, habituates, is common. Researchers have noticed that a neural pathway that is fired the same way for a long time becomes a very smooth pathway and operates more and more efficiently. A person can learn a skill and go through the four stages

-unconciously incompetent – they are not able to drive a car and barely understand how the skill operates

-consciously incompetent – they notice what they are doing wrong and know the definitions better of the task

-consciously competent – they can do the skill now, as long as they think carefully of all the skills needed, hands on the steering wheel, shoulder check, foot on the pedals, look ahead, check the rear view, watch for pedestrians etc.

-unconsciously competent  – they do naturally all the required skills. They do these as a matter of course and now can listen to music or chew gum or have a conversation on another topic and still drive well. They are attentive to the demands of driving and can shift from automatic mode to suddenly very alert to the task mode in a split second in a crisis.  

With dystonia, patients report that what earlier had become habitual, automatic, unconsciously competent activities for them had sometimes slipped back a notch. Now they have to think carefully to plan how to walk a straight line, how to not bump objects, how keep their balance on stairs. Those with vocal cord dystonia report that they sometimes tare in awe at others who speak effortlessly and whose voices are so easily controlled when their own is so hard to control now
The shifts seem to be happening not just in the muscle and not necessarily just in the brain but in change in the messaging between brain and muscle.

When a person first learns a task, movement is usually slow, studied. The muscles over time seem to be less stiff to do the motion, as if they get used to it, familiar with the required subtle actions.  There is a hypothesis the muscle is not just getting used to the motion but so is the brain. It is hypothesized that there is a short term memory encoding which is not stable for long and then there can be a  long term memory consolidation stage. Moving through these stages has been called motor learning or muscle memory.  When a task is being learned the motor and somatosensory cortices are active along with the prefrontal and frontal cortices. However once the skill is well learned, some of those areas are less active. The cerebellum seems the one most involved in motor learning. The basal ganglia seems involved in forming habits.

Researchers have found that motor memory may be impaired in some movement disorders like Parkinson’s disease. A person might wonder also for dystonia if the problem is not that the body can no longer physically do an action, and not that it is locked into not doing it, but that the memory of how to do it is a weak memory. Those who exercise a thumb to very gently uncurl speak of it as reminding the body what an uncurled thumb feels like. Forcing the body to move to the old position may attain it but does not seem to be a gentle enough reminder and causes great pain.

The experience of those with dystonia who find they are having trouble chewing and swallowing may be instructive. Some describe a delay and the result is that food is not processed the formerly easy way. Some patients say the body has to be patiently reminded how to chew and even helped by opening the lips wider and making a more dramatic chewing motion. In the same way when they have trouble swallowing some describe the experience not that something feels stuck in the throat that is an obstruction a Heimlich maneuver might dislodge but as if their body  has forgotten what swallowing felt like and needs nudging. Some patients say  that when swallowing of a gulp of water seems delayed or not easily responsive, it is useful to spit out that first sip and then the throat seems reminded of how to move.. Then, they say, the second swallow is easy.

5.  genetics

The recent findings about dystonia having genetic links are very useful for patients though the results of clinical studies to date suggest that not all people with  dystonia have such markers and not all who do have the  markers develop dystonia.

Some patients have observed not just whether anyone in the family has dystonia but if the genetics link is also there for other movement disorders or brain conditions. Many patients report that they have a family member with Parkinson’s disease, MS or autism. Some patients wonder if a family history of auto immune disorders is linked to dystonia.

Each cell has a nucleus which has  23 pairs of chromosomes, totalling 46

There are genes along the chromosomes. Each chromosome contains hundreds to thousands of genes.The genes differ in size and what they determine eg. hair color

In all there are 20,000 – 23,000 genes

Each gene consists of  a segment of deoxyribonucleic acid DNA.Genes can be big or small depending on the sizes of the proteins they code for. Each DNA molecule is a long double helix, like a spiral staircase. It has two strands, sugar and phosphate and they are linked nucleotides .Each of the millions of steps on this staircase has pairs of four molecules, the nucleotides – adenine is paired with thymine, guanine is paired with cytosine and each pair is held together by hydrogen.

Genes give the message of how to make proteins. The DNA codes tell how to make amino acids and there are  20 different types of amino acids.Proteins are used to build muscle for example.

DNA instructs what cells are needed,what ones to build and even when.Genes also have chemical markers to tell the cells when to start or stop such as for tooth growth or hair color to change or hair to fall out.

There are 24,000 pairs of genes and in each pair one is stronger than the other. The dominant one is active and the recessive one is suppressed. Usually the healthy message of a gene is the dominant message so even if there is some unhealthy part in the pair, the healthy part is the one that is active.  The pairings are not always about health either. A person gets brown hair not blonde hair based on which gene of the pair is dominant though with hair color other factors like age  also are clearly also active.

When people mate, one of each gene pair is contributed to form the baby. If the one each parent gave is a dominant healthy gene, then the child’s pair will be dominant and healthy. If the baby got a dominant healthy gene from one parent and a recessive less healthy gene from the other, the baby ends up still with a dominant healthy gene so is healthy. However if both parents had a recessive less healthy gene and it happened that they both gave that one to the baby, the baby will get two recessive genes and so the baby will have an unhealthy trait..

With dystonia the research shows more and more genes that may be involved. Some are

the DYT1  gene







Some studies show that genes for dyskinesia are dominant.  

D. Specifics of the mysteries

brain mapping

Dr. Penfield was able to map areas of the brain involved in various limbs. This is called the motor homunculus, a brain map of the precentral gyrus of the frontal lobe.  It is what the brain does to make a body part move. When researchers in a lab touch that brain area  a given  body part moves – so this is about message brain to muscle.

            -the areas of the brain, adjacent to each other from front to back are          







            index finger

            middle finger

            ring finger

            little finger







            Then down the back of the area are




            It is noticed that the size of the area is not the same but is bigger if that body

            part makes complex motions. The area of the lips is very large, as is the

            area for the hand and the hip.

            The areas that are adjacent one might assume would be most impacted

            by injury based on their location. So if dystonia is an attack on an area

            of the brain governing one area, for instance, the toes, one might theorize

            that the next area affected would be ankle, then knee, the hip.

            Similarly if dystonia attacked the eyelid one might predict that the

            most adjacent area in the brain may be most at risk subsequently such as the brow,

            neck, thumb. It does not seem that dystonia progresses however in this exact    pattern. Lack of clear adjacent area involvement may

            suggest either that some areas can resist the dystonia or that the dystonia

            is not an attack on an area of the brain,  but a messaging

            problem that goes more generally to many parts of the body.

There is also a map of the brain called the sensory homunculus. This is a brain map of the postcentral gyrus of the parietal lobe, a  map of where the brain receives messages from other parts of the body. When something is sensed in that body part, a message is sent to the spinal cord and along nerves, the message is  processed in the thalamus and then is sent  to this area of the brain . The areas in order there are


            lower extremities




            upper extremities

            hand face



The body is has sensory receptors to send back messages to the brain of

            pain                  temperature                 touch

            position                        vibration                      pressure

            movement of an object along the skin

Dystonia according to some theorists is a problem of the message from the brain

            to the body. However some clinical studies suggest that it may actually

            be a problem also of the message sent from the body back to the brain.

delay and gating

When a person wants to move researchers have studied what the sequence seems to be

a. select a response – fight, flight, stay, lift arm, jump back

b. plan the movement – defined what is needed to make the movement, what muscles

            need to contract, what muscles need to not contract

c. execute the movement -activate the motor neurons to send the message to those

            muscles to act

d, other areas of the brain give information about this movement possibly to suppress antagonist muscles that might prevent the movement

Some have looked at this sequence as

a. ready -parietal and frontal lobes are active and the subcortical structures are attentive

b. set – the supplementary and premotor cortical areas develop strategies for the movement

c. go – an outside source may start this such as a firing gun or may be from inside as a person makes a decision to now move.  The basal ganglia and primary cortex then

enable the movement.

Researcher have found that in dystonia there are delays in this process.

Reaction time is an interval between hearing the go command and that actual motion.

However before that, there is also a delay some have theorized in those with dystonia, in the getting set phase. This gating delay seems to occur as the person prepares to move and wants to move but is not yet able to get all the processes in gear to move. It is a delay that seems worth studying.

Another aspect of motion that some with dystonia report is freezing. The intent to move is there but the body is not responding yet. This seems to be a problem in the third stage, and not just reaction time delay but an actual blockage of function.

progression of the disorder

In some patients the dystona affects the foot and stays there but in others the foot involvement is an early sign of a dystonia that later moves up the leg and to the trunk. Some with dystonia of the face and neck report that over time the dystonia seems to move down to affect the leg.  The direction of these two phenomena is different and the mechanics of what is happening may be different in the muscle, the brain or the messaging. A history of the progression therefore may be useful. 

the body’s natural defenses and dystonia

The hypothesis that dystonia is due to  an outside invader  (virus, toxin, trauma) or an inside design flaw (genetics, personality type, race) may not provide adequate explanation.

One possibility is that dystonia is an exaggeration of a natural response. The body has its own checks and balances system to ensure that living beings are not vulnerable to the complexity of an environment, can adapt, and it is possible in dystonia  the adaptation that has gone wrong.

-infection and immune response

-hormone changes – time of month, pregnancy,lactation,aging

-attention and concentration

-practice and perfectionism

-injury and recovery

-stress and high demand

-worry and rumination

Humans are able to the demands of life because of  flexibility of the brain and body to respond. Some patient reports suggest that with dystonia the body responds too much to a challenge, not too little, as if it went into overdrive, exhausted its ability to fight any longer. Here is how that might work:

 After infection and immune response or during hormone changes – time of month, pregnancy,lactation,aging= the body is already adjusting. Dystonia may be an unusual response to that adjustment. Some women with dystonia report that their body still acts differently at certain times of the month, and that the dystonia shifts.  This phenomenon has been found in other conditions also. A person with diabetes often finds that their blood sugar level is higher just before their menstruation. A person with MS may find theirsymptoms nearly disappear during pregnancy. In pregnancy many women

find their skin condition improves.. It may not be that hormone level change cures dystonia but there may be a hormonal effect worth study.

Many people develop dystonia after menopause.  It may be that

with this significant hormone shift, whatever was able to keep    

dystonia at back no longer is there to do so, is used up or exhausted.

attention and concentration

Many report that before they developed the condition  they were employed but at a very demanding job, responsible for many workers, working long hours, never taking a holiday.  Some theorize that dystonia was a result of burnout,  exhaustion, overuse of the same pathway without enough rest. In that regard, dystonia may be not a penalty for competence but in a way a body  response at lack of variety outside that

narrow pathway of repetitive demands.

Some report a distraction effect such that when they are concentrating hard on another topic, the dystonia seems less.  Prioritizing is a higher level mental function, being able to ignore a sore throat when a person is crossing a busy street, able to ignore a minor irritation, when there is something more pressing. However some situations are instinctively hard to ignore. A jet pilot reported once that a bee got stuck in his helmet during one maneuver and that it was nearly impossible for him to ignore his gut instinct to care about it more than the flying. Ignoring something pressing takes energy. It may be that those who overwork are dealing constantly with a strong other desire to quit. This natural urge is at odds with the very push to keep working. The battle between the two pressures may be chemical at a neurotransmitter level and dystonia may be when that system goes  into overload and one neurotransmitter is just used up.

practice and perfectionism

Those who are adept at a sport, at the peak of their baseball or golf career, are often the ones hit with dystonia. Much of society advances because of this drive, where scientists

like Einstein ,Faraday and Galileo were known for their long hours and patience. When Thomas Edison was criticized for failing after so many tries to create a useful light bulb he replied  ” I have not failed. I’ve just found 10,000 ways that won’t work”. He said” Genius is 1% inspiration and 99% perspiration”.  

The hypothesis that overuse can cause dystonia may be more complex

than just that overuse of the same neural pathway for the same motion wears it out.

What may be happening is that the pathway needs time to repair and not given the time to do so. A person might compare for instance            to the person who stays up too long and fights so hard to resist falling asleep that the body goes into a crisis of responding to two messagesat the same time. The person driving a long distance is trying to stay

awake, opening windows, turning up the radio and still the body urge

is so strong that he may fall asleep at the wheel.  The mind of an

accomplished golfer may be calm, just trying to get it right, but the body

may be having a slightly different response, exhausted from


When weightlifters lift a heavy object one sees quite visibly the effort, the strength to hold the bar high and then the shaking, intense struggle to keep it up there. When the weightlifter finally puts the weight down there is a visible relief, evidence of the

intense body pressure he was under to respond to the message ‘put it down, let go’ that had gotten stronger, despite the also strong message “hold it up just a bit longer’.  Such dual messages at work in the brain may be involved in dystonia particularly in people who are driven to do a task very well.

Dystonia in musicians is rarely seen among novices.It occurs among those who are particularly accomplished, and usually at the height of their career. Their practice of a difficult passage to get it just right may put intense demands on the brain along a very specific neural pathway and intense demands on the muscles responding  to respond over and over in a very specific way. One hypothesis is that these activities produce muscle fatigue and brain fatigue. For accomplished musicians when a passage is difficult the musician tends to practise it even more. This however makes this often worse. The other message from the brain is ‘quit” give me a break, call it a day. The musician may be dealing with those two messages at such a high intensity that one of the neurotransmitters in the brain gets used up.

The treatment of dystonia with neurotransmitter level adjustment seems

somewhat successful. Pills str often given for anxiety or depression. The pills may qease

some of the shaking or sleeplessness. However the pills may not

change the internal message battle. Professional musicians have another factor

at stake- career. The stakes are very high, for reputation and employment.  Turmoil inside the body of an accomplished musicianis reportedly already high with performance schedules, travel, absence from family and as one person has said about professional ballerinas, they live always on the edge of just wanting to quit the whole thing

Patients commonly report two significant risks with medication to adjust neurotransmitter levels. One is that anxiety may get worse. Clinical studies of neurotransmitter levels have found that in a given patient there may be unusually low levels of dopamine in one part of the brain but normal levels in another, or unusually high levels of acetylcholine in one area but normal levels in another. When a pill is taken it is possible that it goes to all of the areas however.  Such pills may one day be very helpful to get the neurotransmitter depletion back to required level but in the meantime some patients report that the treatment  does yet seem precise enough.

The other risk that is is that some medications have been found to have a real risk of producing dystonia or for those who have it, making  it worse. This is an intriguing development though the irony of it is not lost on patients.  It suggests that science is working in nearly the right area, but just getting the tuning wrong.            If a person is working at a panel of switches and are trying to get the kitchen lights to turn off, but what they touch makes the garage lights turn off, then they are in the wrong  place, but they must be close to the right one. The switches are light switches. Some patients report that dystonia

treatment by pills seems to at this same stage of the science,  in the nearly right place, but not quite right.

injury and recovery

Some people with dystonia report that they had a fall, injury, oxygen deprivation, a stroke and after that the dystonia developed. The human body is able to recover from many challenges, reroute blood flow around blocked arteries, reroute neural messages to learn to walk again.. These workarounds seem  part of the design of the body, like the immune system’s ability to fine tune its fight against invaders.

With dystonia however one hypothesis is that the  repair did not fully happen. It may be that dystonia is the body trying very very hard to heal but just misjudging what the crisis is. Patients oftenexpress surprise at the intensity of the pressure on the neck to tilt it-

a nearly survival level intensity as if this really has to be done no matter what.  The body usually only gives that type of  message when gasping for air when a person is drowning.

Clinical studies have shown also that if a nerve is severedor a muscle is severed to make the dystonia impossiblein that area, the body in not too long sends the dystonia

message to an adjacent muscle. This result is amazing because it suggests that the dystonia was not just about an error in that muscle or in the firing of that nerve passage but was a more profound message of crisis level urgenc in the brain.

People feel an increasing pressure when they hold their breath, to eventually

breathe. When they have to urinate they can delay for a while but

eventually cannot. Some patients report that dystonia seems of similar

inbuilt override intensity, which surprises them because it is a message that is not useful to survival.

viruses and infection

Social media sites for patients occasionally ask if anyone else had certain infections before they were diagnosed. Since brain damage has been linked to several viruses in other studies, this does seem a useful area of research. Encephalitis is known to sometimes result from herpes simplex, varicella zoster, Epstein Barr, adenovirus, cytomegalovirus, enteroviruses, rubella or measles. Shingles can enter the brain and cause complications. Though these effects may be rare, patients with dystonia sometimes wonder whether that is what happened to them.

Deer ticks have been known to spread viruses including Powassan and lyme disease. Symptoms of lyme disease can include severe joint pain, loss of muscle tone, drooping on one side of the face, brain inflammation, and shooting pains, tingling or numbness in hands and feet.  These effects may be rare but when people are diagnosed with dystonia some to look back on all their previous experiences and wonder if there are patterns.  Questions about such past experiences were also therefore made part of the survey.

stress and high emotional demand

Some patients report that their dystonia started after a personal

crisis, a job loss, divorce, death of someone close.  These

situations have in common that they are not reparable, that a person

cannot go back and do the situation over.  Unlike the perfectionist

drive of scientists, athletes or musicians to keep at it and get it

right, emotional stress from a major loss may seem unfixable by

any new action. Such a situation is often treated as just about


People with dystonia have historically often been told that they

were just not dealing well with life, were even mentally ill

if life upset them and that dystonia was the visible result.  However what

may be happening may be an actual physical change.. A young woman whose spouse diedsuddenly of a stroke found her hair starts to fall out. The body that

is built to handle crisis sends in its adrenaline to give energy to address the crisis.  However more energy to work with does not fix a major

loss. A mother whose child was just diagnosed with an incurable

illness may find she has tremendous energy to address the crisis, and can endure loss

of sleep as she researches the condition. She is

like a mother bear primed to defend her young, but and is seeking an outlet

for all of this energy. She has anger and no one to logically


This pent up emotion with no clear societally approved way to

express it after a huge loss, may create in the brain conflicting dual messages

and surging neurotransmitter levels.  The way to solve the problem is not a clear

path after such loss and there is likely a strong other inclination, to just despair  When the brain is giving two messages day after day it seems like something wears out,

Patient reports suggest an oddity of dystonia is not that after a huge emotional loss that the muscles just got floppy. They stayed  tight, nonstop -and that became the problem. Some have likened it to a car where the gas pedal sticks down or the subway train keeps speeding up and can’t be slowed.

worry and rumination

Some patients report that they were originally diagnosed with anxiety, as if worry was itself the problem  Though recent research has found genetic links to dystonia and MRI evidence of it, patients admit that dystonia seems to have some links to anxiety. The links may be not causal however. Having pain nonstop itself can cause anxiety, having an incurable condition can cause anxiety, and not being sure of one’s own future can cause anxiety. Patients who try many ways to reduce anxiety often report that some of these strategies help- music, exercise, massage, yoga. However they do not reduce the dystonia.

The way the brain handles worry seems poorly understood and it may be that overworry to the point of rumination, replaying of negative thoughts, depletes a neurotransmitter resource in the brain. When a logical, educated person is unable to get out of a mind set, that may suggest that there is overfiring of a neural pathway or depletion of a neurotransmitter to the point of exhaustion. Patients report however that medical treatments for anxiety, depression, PTSD  often can be problematic themselves. For some patients, certain pills can add to anxiety, and a few can have as side effect hallucinations, memory loss, suicidal thoughts. It may be that as the science of brain chemistry advances, patient histories will help practitioners fine tune prescriptions to be of more consistent help.


Some causal factors may work together to result in dystonia where one alone might not have but in this patient, with this confluence of factors did  Many patients wonder whether a given stressful experience increased their likelihood of getting dystonia, in a similar way to how  being tired or malnourished may increase risk       of not being able to fight off a head cold.  Patients talk about why a given medicine they were prescribed for anxiety works well in some people but in them does not, and how some people took a pill that can lead to dystonia but did not get it while others took the pill and did.  Patients wonder about what aspects of their personal body chemistry might  have predisposed them to suffer a perfect storm, to be more at risk of dystonia.

If a person has certain allergies some medications do not work as well for them or may even cause harm. It may be useful when a person is diagnosed with dystonia to know their allergy profile, and some features of their body that are less often asked – body mass index, tendency to have strong reactions to small doses of medication. Seeing patterns may help doctors prescribe treatments that are more likely to have fewer side effects for this particular patient and may also prevent development of dystonia in some patients. However asking such detailed questions takes time. The surveys attempt to see if there are relevant patterns but the surveys are admittedly not very thorough on this topic.

E.  Comments from clinical studies and researchers

about cause  in general

– Little is known about the cause of focal dystonia

– Although risk factors  have been identified, the causes of focal dystonia have yet to be determined

– The exact etiology of dystonia remains unknown

-Secondary dystonia can also be caused by a number of things including infections, drug reactions, poisoning, trauma (brain damage from injury), stroke or complications

-Researchers have yet to fully understand the causes and subsequent treatments of tardive dystonia or tardive dyskinesia.

about the mechanisms involved in general

– In CD (cervical dystonia) the normal ‘set point” becomes altered in the brain. The mechanism by which this occurs is not known

– The neural mechanism of dystonia remains largely a mystery and an adequate model is lacking

– The pathophysiology leading to the clinical manifestations of focal dystonia remains obscure

– What goes wrong in the basal ganglia is unknown

about it not being imaginary or faked

-Numerous movement disorders have been too often inappropriately labelled psychogenic. Such a diagnosis not only causes unnecessary suffering but precludes appropriate treatment.

about injury

– The mechanisms underlying peripheral injury-induced dystonia are poorly understood

about medications

-A large number of drugs are capable of causing dystonia

-Dystonia and dyskinesia can also develop as permanent disorders after long term use of dopamine blocking medications

about environmental causes

– Secondary or acquired dystonia is caused by disease or some environment agent that damages the basal ganglia.

– The role of environmental factors causing or contributing to dystona remains uncertain

about genetics

– There is no way yet to predict whether a person with the abnormal gene will develop symptoms of dystonia

– It is not clear why some individuals who inherit a specific gene develop a severe form of dystonia while other who have inherited the same gene do not.

-It is now thought that with focal forms of dystonia, genetic predisposition plays a significant role either by rendering a decrease of inhibition , an increase of plasticity or an impairment in sensory function

-It is possible that breakthroughs in genetics may allow diagnosis of hereditary dystonia more easily.

F.  Comments from patients -their own speculation about cause

earlier surgery

I had had several shoulder surgeries and my muscle had mysterious spasms

My hand started to curl into a fist after I had shoulder surgery

In utero I ran out of air for a few minutes and I had an awkward forceps delivery

genetics, inherited condition suspected

ALS runs in our family

I already had rheumatoid arthritis

I have had dystonia since birth.

I was born with several illnesses including dystonia

I was born with this condition – I can tell from looking at old photos

I was diagnosed with dystonia after getting chickenpox at age 7 and having a stroke

My mother also had dystonia

My mother had Parkinson’s

My two children and two of my grandchildren also show symptoms

My uncle had Parkinson’s

One of our kids has autism

There’s already so much illness in my family our dance card is already filled

Two of our children have developed the condition too

injury, trauma

After a fall my dystonia got worse and my foot locked up

I had a seizure as an infant and stopped breathing for a time

It started after I tripped going up some steps

When I was young I was a cheerleader and my shoulders often would dislocate


My dystonia returned the day after I had been partying, drinking and taking MDMA
I got it after medication for depression,  anxiety and PTSD

overuse of muscle

My condition got worse after a camping trip and dragging bags uphill

I have a theory that my transcription job had an effect

I am convinced that the nature of my work having to sit and look down all day started it

overwork, long hours

For years I took no vacations and had a lot of stress at work

I got the eye problem about the same time as work burnout

I had a hectic schedule of training and sports and before dystonia my life was frantic

I had busy days at work

I had never taken a sick day for my whole job

My work was hectic with long hours

I was active in everything- cheerleading, golf, choir, high school theatre

virus, infection  or vaccine

My symptoms got worse after a whooping cough infection

I got it after a shingles vaccine

worry, stress

The death of my mother seemed to make the dystonia worse

about not knowing causes or mechanisms involved

Research needs to be done for a better understanding of the brain mechanisms involved

G  How to ask

 Source of question ideas

 – clinical studies, patient reports

H. Question categories



auto immune, virus

biological  structure

brain function, map, or muscle function




overuse, past career

personality type


stress extreme


trauma and injury


I.  Questions asked  -survey number, question number

surveys 19, 41

J. Results


19        40            causes              28            85                    x                                  long

41        6            causes              6            7                      79                                1

max no. respondents                             40

total questions                                     92

likely type of dystonia                                   all

percent of all respondents doing survey    40 of 508 or 7.9%   

K. Results

(The bracketed item at the end of each question set indicates the survey number and then the question number. eg. 1-3 is survey one, question 3)

1. general

Have you had many thoughts wondering what caused your dystonia?

            86.23% Yes

            13.77% No (1-14)

2. allergies

These questions ask about allergies before dystonia.

            0% I am allergic to gluten

            0% I am allergic to eggs

            0% I am allergic to dairy products

            0% I am allergic to other foods -eg. tomato, sesame

            26.09% I have sensitivities and avoid certain foods or else I am uncomfortable

            34.78%  I have respiratory allergies – eg. to dust, pollen, grass, hay

            13.04% I have scalp problems

            17.39% I have skin allergies when I touch some products. -eg wood, metal

            26.09% I have skin sensitivity

            8.70% I have allergies to some smells

            47.83% I have no particular allergies or sensitivities (23-2)

3. autoimmune

Do you have an autoimmune disease such as MS. diabetes, rheumatoid arthritis, polymyositis, Hashimoto’s thyroiditis?

            15.00% Yes

            85.00% No ( 19-1)

Does anyone in your immediate family have an autoimmune disease like MS, diabetes, rheumatoid arthritis, polymyositis, Hashimoto’s thyroiditis?

            33.33% Yes

            66.67% No (19-2)

4. virus, bacteria

Did you have a serious viral infection before diagnosis?
            18.92% Yes

            81.08% No (19-35)

Has it felt like your body is fighting dystonia like it fights a virus?

            37.84% Yes

            62.16% No (19-69)

Do you have an unusual white cell blood count?

            2.63% Yes it is low
            0% Yes it is high
            86.84% No. It is normal as far as I know
            10.53% unsure (19-38)

5. body structure – blood circulation

Do you wonder if your blood circulation to that muscle is normal?

            18.92% Yes 

            81.08% No, it seems OK.  (19-61)

Do you wonder if there is nerve blockage in the area of that muscle?

            38.89% Yes I’ve wondered about that

            47.22% No, the nerves seem normal for sensation

            13.89% No, the nerves if anything seem overactive( 19-62)

Does it seem like your muscles are abnormal in structure?

            19.44% Yes

            80.56% No (19-59)

6. brain malfunction

Does it feel like your brain is sending a message but the body is also getting an opposite message?

            47.22% Yes

            11.11% No

            41.67% unsure (19-73)

These questions ask about the basic problem of dystonia, in terms of brain and muscle

            17.65% It seems like the problem must be in my muscle itself because my brain

                        seems to be sending a clear message

            58.82% It seems like the problem must be in the brain’s message because the

                        muscle seems structurally fine

            47.06% It seems like the problem might be inside the brain that makes it hard for

                        it to send a clear message, maybe some part of my brain is tired

                        or too active or miswired

            11.76% It feels like the problem might be not in the message my brain sends to

                        the muscle but in the answer my muscle sends back, like not registering

                        accurately what things I’m touching or what motions are needed

            17.65% It feels like the way I move is the result of 3 things- the message from

                        the brain to move, the muscle’s response to that instruction and then my

                        brain’s new instruction of plan B

            23.53% unsure

            5..88% not appropriate (20A-9)

Does it seem possible that in dystonia two adjacent brain areas are not quite right?

            65.00% Yes

            35.00% No (20A – 2)

Studies have found that in the substantia nigra and the striatum of the brain of some people with dystonia, there is a lower than normal level of dopamine.  That would suggest the problem is they need dopamine. However some patients seem to have too much dopamine. Does research into dopamine levels seem like a good idea?

            81.58% Yes

            5.26%  No

            13.16% not sure (19-66)

There is a theory that to make any specific movement you have to suppress other possible movements near it. This is called surround inhibition. If you want to move a pointer finger, you suppress having the other fingers move.  Dystonia may be a problem with that suppression message so there is less inhibition, less turn- off message to the other fingers. The basal ganglia is believed involved in surround inhibition. Does it seem that the precision of the message to move is less, with dystonia, and that other motions nearby are activating?

            53.33% Yes

            46.67% No (20A- 11)

Does it seem that with dystonia there is a strong message being given in error to healthy body parts?

            81.58% Yes

            18.42% No (19-70)

7. muscle malfunction

Does it feel like some muscles are controlled and some move out of control?
            94.59% Yes, some do not seem as much in my control

            5.41% No, they all seem under my control.  (19-74)

Does it feel like the instructions from the brain are fine but the muscle has trouble doing as told?

            40.00% Yes

            22.86% Possibly

            37.14% unsure (19-75)

Does it feel like the muscle is sending back the wrong message to the brain?

            50.00% Yes possibly

            8.33% Probably not

            41.67% unsure (19-76)

To bend the elbow, the biceps contracts while the triceps relaxes. Put another way, one is inhibited from acting so the other can act. However with dystonia the observation is that there is no inhibiting and the two opposing muscles both tighten at the same time, against each other. This is called failure of reciprocal inhibition. Does it feels like your muscles are battling?

            61.11% It feels like two muscles that are opposite normally are both trying to pull

            22.22% It feels like my brain is giving one instruction but something else

                        is resisting it

            38.89% It feels like there is some force on my muscle to not let it do what I ask

            38.89% It feels like I am in a battle trying to do one thing, my body saying no,

                        and my brain saying just to keep trying

            22.22% unsure (20A – 7)

8. environment

Have you ever had carbon monoxide poisoning?
            0% Yes

            100.00% No (19-46)

Have you had an unusual exposure to manganese, cyanide or3- nitroproprionic acid?

            0% Yes

            100.00% Not as far as I know (19-48)

Have you had unusual exposure to mercury?

            7.89 % Yes

            92.11% Not as far as I know (19-47)

environmental conditions

            50.00% I lived or worked near a factory with toxic chemicals

            0% I spent time near a site with uranium or nuclear weapons testing

            0% I had carbon monoxide poisoning

            0% My job required me to use powerful chemical

            0% I had parasites

            16.67% I was bitten by a black spider or tick

            50.00% none of the above ( 41-2)

9. genetic

There is a theory that we inherit ways the brain maps sensation. Did any of your relatives have the same skills as you do in  music or crafts or other precise movements?

            13.89% Yes

            61.11% No

            25.00% not applicable (19-65)

Were you born with dystonia?

            12.50% Yes

            87.50% No (19-3)

Did any of your grandparents have facial tics, neck tilts, awkward body movements?

            13.51.% Yes

            72.97% No

            13.51% Did not know them (19-51)

Does or did your birth father have any facial tics, neck tilts, awkward body movements?

            13.89% Yes

            86.11% No (19-49)

Doer or did your birth mother have any facial tics, neck tilts, awkward body movements?

            13.51% Yes

            86.49% No (19-50)

Did any of your mother’s siblings have facial tics, neck tilts, awkward body movements?

            10.81% Yes

            72.97% No

            13.51% unsure

            2.70% inapplicable (19-54)

Did any of your father’s siblings have facial ticks, neck tilts, awkward body movements?

            13.51% Yes

            64.86% No

            16.22% unsure

            5.41% inapplicable (19-53)

Do any of your siblings have facial tics, neck tilts, awkward body movements?

            8.11% Yes

            89.19% No

            2.70% not applicable (19-52)

Do any of your cousins have facial tics, neck tilts, awkward body movements?

            10.81% Yes

            81.08% No

            8.11% inapplicable (19-55)

Do any of your nieces or nephews have facial tics, neck tilts, awkward body movements?

            0% Yes

            70.27% No

            13.51% unsure

            16.22% inapplicable (19-56)

Do any of your blood relatives have tremor, fixed-rate rhythmic oscillation of head, voice or hands?

            30.56% Yes

            69.44% No (19-57)

10. previous illness

Did you in childhood have trouble dealing with infections like a cold?

            28.95% Yes

            71.05% No (19-32)

Did you have a lot of childhood illness before age six?

            20.51% Yes

            79.49% No (19-27)

Did you have childhood measles?

            23.68% Yes

            57.89% No

            18.42% unsure (19-30)

Did you have childhood varicella (chicken pox)?

            76.32% Yes

            15.79% No

Did you have childhood mumps?

            28.21% Yes

            48.72% No

            23.08% unsure (19-29)

Did you have a high fever shortly before diagnosis?

            2.70% Yes

            97.30% No (19-34)

Before you had dystonia symptoms did you have a brain tumor?

            0% Yes

            100.00% No (19-37)

Before dystonia symptoms did you ever have shingles?

            8.11% Yes

            89.19% No

            2.70% I had the vaccine for shingles (19-40)

Have you ever had  meningitis or encephalitis?

            2.70% Yes

            97.30% No (19-33)

Did you have scoliosis as a child?

            15.38% Yes

            84.62% No (19-28)

These questions ask about previous illness

            0% I once had a heart attack

            16.67% I once had a stroke
            0% I one had Epstein Barr virus

            16.67% I one had bell’s palsy or facial numbness

            16.67% I had lyme disease

            33.33% I have had irritable bowel syndrome

            50.00% none of the above (41-3)

Did you ever get treated for a bone marrow disorder?

            0% Yes

            100.00% No (19-39)

11. overuse, career

Did you become very skilled at fine movements and then got dystonia in those muscles?

            37.50% Yes

            62.50% No (20A-18)

Does your job require assembly line work?

            7.89% Yes

            92.11% No (19-25)

Does your job require you do to repetitive movements like grocery store cashier?

            28.95% Yes

            71.05% No (19-24)

Does your job require precise repeated hand movements like seamstress, artificial flower maker, watchmaker, knitter, engraver, mason, enamaller, shoemaker?

            28.95% Yes

            71.05% No (19-23)

Did you do a  lot of public speaking before you go vocal dystonia?

            21.05% Yes

            28.95% No

            50.00% not applicable (19-26)

Have you played a brass instrument for years and now developed symptoms of dystonia?

            2.63% Yes

            97.37% No (19-21)

Have you played a wind instrument for years and now developed symptoms of dystonia?

            5.26% Yes

            94.74% No (19-20)

Do you play a musical instrument that requires precise repeated hand movements?

            10.26% Yes

            89.74% No (19-19)

Are you an accomplished dart player who has symptoms of dystonia?

            0% Yes

            100.00% No (19-18)

Are you an accomplished golfer who now has symptoms of dystonia?

            0% Yes

            100.00% No (19-17)

These questions ask about the type of job you had before dystonia.

            100.00% I had a job with high stress and responsibility

            12.50% I had a job in charge of a lot of people

            25.00% My job required fine hand motion. eg cake decorator

            12.50% My job required repetitive arm motion – eg. packer,

                        grocery store clerk

            12.50% not applicable (25-5)

12. personality type

Before dystonia could you usually handle stress quite well?

            77.14% Yes most of the time

            22.86% No, I was often easily upset (19-78)

personality before dystonia diagnosis

            0% I tend to be a casual, laid -back person

            83.33% I tend to be a quiet, shy person

            0% I tend to be outgoing, vibrant and social

            83.33% I tend to be meticulous, attentive to detail with high standards

                        for myself to perform

            0% I have always gotten angry easily

            66.67% I tend to be a calm person and to suppress show of anger

            83.33% I pride myself on trying to solve problems (39-6)

13. pills

Before dystonia, did you take any medicine that you now have learned can sometimes be linked to dystonia?

            13.89% Yes

            86.11% No (19-58)

Before the dystonia were you prescribed benzodiazepines?

            5.56% Yes briefly for under one year

            5.56% Yes, for over one year

            88.89% No (14-60)

Before the dystonia were you prescribed pills for neuroleptic?

            0% Yes briefly for under one year

            0% Yes for over one year

            97.14% No

            2.86% unsure (14-61)

-medicines you frequently used before dystonia diagnosis

            0% I frequently took medicine for stomach acid or indigestion

            33.33% I frequently took medicine for headache

            16.67% I frequently took allergy medicine

            0% I frequently took painkillers

            50.00% I for some time was given pills for anxiety or depression

            33.33% none of the above ( 41-4)

Before the dystonia were you prescribed anti-nausea pills?

            0% Yes regularly

            19.44% Yes occasionally

            80.56% No

            0% unsure (14-63)

Before the dystonia did you get treatment for ear pain?

            13.51% Yes

            81.08% No

            5.4!% not applicable (14-57)

Did you get treated for stress before you developed dystonia?

            32.43% Yes

            67.57% No (19-81)

Before dystonia were you prescribed anti-anxiety pills?

            8.33% Yes, briefly for under one year

            16.67% Yes for over a year

            75.00% No (14-58)

Before the dystonia were you prescribed antidepressants?

            8.33% Yes briefly for under one years

            25.00% Yes for over a year

            66.67% No (14-59)

Before the dystonia were you prescribed anticonvulsants?

            5.41% Yes briefly for under one year

             2.70% Yes for over one year

             2.70% unsure

             89.19% not applicable (14-62)

14. extreme stress

Did you have an unusually high number of stressful events before dystonia that one at a time you could have handled but that together were very challenging?

            45.95% Yes

            54.05% No (19-80)

Just before dystonia did you suffer a huge emotional loss?

            27.03% Yes

            72.97% No (19-79)

Research has found there is a gene that responds to stress in the body, the PRKRA gene. It sometimes seems linked to dystonia. What are your thoughts about linkd between genetic, dystonia and anxiety?

            64.71% I am intrigued to learn that we have a genetic mechanism that activates

                        when we are under stress

            52.94% I did have a lot of stress before I had symptoms of dystonia

            82.35% I think that stress alone did not cause my dystonia (20A-43)

These questions ask about your stress level in the months before dystonia diagnosis.

            16.67% I was under no particular extra stress

            66.67% I was dealing with an overwhelming amount of stress

            16.67% Someone close to me had died

            50.00% I was having relationship problems

            33.33% I was having financial problems

            33.33% I was having career problems

            33.33% Someone near me was having significant problems that

                        saddened me greatly

            33.33% I was having a perfect storm of a lot of things going wrong at once

            16.67% none of the above (41-5)

15. surgery

Have you had carpal tunnel surgery?

            2.56% Yes

            97.44% No (19-15))

Did you have surgery and anesthesia just before you got symptoms of dystonia?

            7.89% Yes

            92.11% No (19-14)

Did you have major dental surgery just before you got symptoms of dystonia?

            2.63% Yes

            97.37% No (19-16)

Before the dystonia did you have brain surgery?

            2.78% Yes

            97.22% No (14-67)

16. radiation, IV, chemo

These questions ask about medical treatments you had had in the years before diagnosis.

            0% I had cervical fusion surgery

            0% I had chemotherapy for cancer

            0% I had radiation treatment for cancer

            100.00% none of the above ( 41-6)

Before the dystonia did you have radiation treatment for the head?

            0% Yes

            100.00% No

            0% unsure (14-64)

Before the dystonia did you have radiation treatment for the neck?

            0% Yes

            100.00% No

            0% unsure  (14-65)

Before the dystonia did you have to be rehydrated with IV?

            11.11% Yes once

            0% Yes, on several occasions

            88.89% No (14-66)

17. injury, trauma

Were you told you had restricted head movement in the womb?

            0% Yes

            100.00% No (19-5)

Did you have a birth injury or lack of oxygen at birth?

            2.63% Yes

            97.37% No (19-4)

Have you ever had a stroke?

            5.26% Yes

            94.74% No (19-36)

Have you ever had a back injury?

            37.84% Yes

            62.16% No (19-11)

Did you have a motor vehicle or sports accident with head trauma?

            20.51% Yes

            79.49% No (19-12)

Did you have an acute hand injury or hand inflammation before diagnosis?

            5.13% Yes

            94.87% No (19-10)

Have you had a whiplash type injury?

            41.03% Yes

            58.97% No (19-9)

Did you lift or catch a very heavy object not long before diagnosis?

            5.41% Yes

            94.59% No (19-8)

Did you fall or get struck in the neck not long before diagnosis?

            7.69% Yes

            92.31% No (19-7)

Did you ever faint, and on falling get a head injury?

            17.95% Yes

            82.05% No (19-6)

Did you recover from a significant head injury in childhood and live a normal life till some decades later when the dystonia appeared?

            7.69% Yes

            92.31% No (19-13)

-previous accidents or injuries

            0% Before dystonia there was a time  I nearly drowned

            0% Before dystonia there was a time when I was in a coma

            16.67% Before dystonia there was a time when my brain was deprived

                        of oxygen

            83.33% none of the above (41-1)

18 vaccine

-vaccines you have had

            33.33% I had a vaccine for shingles

            66.67% I had a live vaccine for measles, mumps, rubella

            66.67% I had a live vaccine for chicken pox, smallpox or yellow fever

            0% I had a vaccine for hepatitis B or HPV human pipiloma virus

            83.33% I had a polio vaccine

            83.33% I had a vaccine for diphtheria or tetanus

            0% I had a vaccine for meningococcal disease

            0% I had vaccine for rotavirus

            66.67% I had a flu shot

            16.67% not sure

            0% none of the above ( 41-7)

19. predisposition and other factors mixing

Is it possible you had an inherited predisposition and then an injury?

            54.05% Yes it’s possible

            40.54% No I doubt it

            5.41% not applicable (19-83)

Is it possible that you had an inherited predisposition and then were given medication that in some people leads to dystonia?

            32.43% Yes it’s possible

            62.16% No I doubt it

            5.41% not applicable (19-84)

Is it possible you had an inherited predisposition and then an environmental challenge or illness?

            56.76% Yes it is possible

            37.84% No I doubt it

            5.41% not applicable (19-85)

20. future research avenues

Now that a genetic link has been found for some forms of dystonia, it may be possible with pre-implanting and with in-vitro fertilization to help prospective parents, one of whom carries the mutation, to have a baby that does not. Do you approve of such genetic manipulation?

            100.00% Yes

            0% No (20B – 45)

It is possible to get human volunteers who have the DYT1 dystonia- related mutation to contribute cells to a cell bank, so researchers can study internal cell pathways and test for what treatments may work for dystonia. Do you approve of such cell collection and experimenting?

            100.00% Yes

            0% No (20B- 44)

It is possible to get human volunteers to provide adult cells that can be genetically reprogrammed in a lab to an embryonic stem-cell-like state. These can then be transformed to other cell types, including to possibly convert cells into neurons. Do you approve of such stem cell research to help understand dystonia?

            100.00% Yes

            0% No (20B – 43)

It is possible to donate your brain after death, for researchers to do further research on dystonia. Do you approve of such donations?

            100.00% It seems like a good idea for those who are willing

            0% I do not approve of such donations ( 20B- 47)

L. Analysis

Because these surveys were anonymous and did not have access to the medical history of the respondent, the surveys cannot make a correlation between the type of dystonia and patient history. Such a correlation would be useful.

What is useful to know is whether those with dystonia had more likelihood that the general population at that time, of developing dystonia.  Incidence of having had flu vaccine or having had measles in childhood may also be  related to age of patient and medical advances during their lives. The statistics for use of vaccines, rates of childhood infections in the general population are relevant and are not fully examined in this study. However trends of the responses may suggest useful avenues of further inquiry.

The questions about possible causes of dystonia were numerous and counting all the subsections, well over a hundred questions were asked. The fact that a statistically significant number of respondents replied to every question itself indicates a very high degree of interest in this area of inquiry and a keen desire to help solve the mystery of dystonia’s cause.  The fact that many respondents with dystonia have trouble sitting at a computer, using the hands, or the eyes, makes the high response rate even more indicative of strong commitment to the topic.

Overall ranked results of previous history

83.33% polio vaccine

83.33% vaccine for diphtheria or tetanus

76.32% childhood varicella -chicken pox

66.67% was handling an overwhelming amount of stress

66.67% live vaccine for measles, mumps, rubella

66.67% live vaccine for chicken pox, smallpox or yellow fever

66.67% flu shot

50.00% lived or worked near a factory with toxic chemicals

50.00% was given pills for anxiety or depression

50.00% was having relationship problems

45.95% had an unusually high number of stressful events

41.03% had a whiplash type injury

37.84% had a back injury

34.78% respiratory allergies

33.33% someone in immediate family has an autoimmune disease

33.33% irritable bowel syndrome

33.33% frequently took medicine for headache

33.33% was prescribed antidepressants

33.33% was having financial problems

33.33% was having career problems

33.33% someone near me was having significant problems

33.33% was having a perfect storm of a lot of things going wrong

33.33% vaccine for shingles

32.43% was treated for stress

28.95% childhood trouble dealing with infections like a cold

28.21% childhood mumps

27.03% suffered huge emotional loss

26.09% food sensitivities

26.09% skin sensitivity

25.00% was prescribed anti-anxiety pills

23.68% childhood measles

20.51% many childhood illnesses before age six

20.51% had a motor vehicle or sports accident with head trauma

19.44% muscles seem abnormal in structure

19.44% was prescribed anti-nausea pills occasionally or regularly

18.92% serious viral infection

17.95% fainted and on falling got a head injury

17.39% skin allergies to touch some products

16.67% bitten by a black spider or tick

16.67% stroke

16.67% bells palsy or facial numbness

16.67% lyme disease

16.67% frequently took allergy medicine

16.67% someone close to me had died

16.67% brain was deprived of oxygen

15.38% scoliosis as a child

15.00% have an autoimmune disease

13.89% took medicine that can be linked to dystonia

13.51% got treatment for ear pain

13.04% scalp problems

11.12% was  prescribed benzodiazepines

11.11% had to be rehydrated with IV

8.70% allergies to some smells

8.11% shingles

8.11% was prescribed anticonvulsants

7.89% unusual exposure to mercury

7.89% had surgery and anesthesia just before dystonia

7.69% fell or got struck in the neck

7.69% had significant head injury in childhood and recovered

5.41% lifted or caught a very heavy object not long before diagnosis

5.26% had a stroke

5.13% had an acute hand injury or hand inflammation

2.78% brain surgery

2.70% high fever shortly before diagnosis

2.70% meningitis or encephalitis

2.63% unusually low white cell blood count

2.63% major dental surgery

2.63% had birth injury or lack of oxygen at birth

2.56% had carpal tunnel surgery


The link with chicken pox, shingles and vaccines for those two conditions seems higher than among the general population. Chicken pox before the vaccine was developed was seen in 95 of children and in 10-20% it recurred years later as shingles. Shingles is now reported to occur in about one third of adults though vaccines are shifting those statistics. Those with dystonia today would straddle the eras of before and after vaccines had been developed. The link of chicken pox and shingles to dystonia is not clear but may be worth study.

The higher than usual rates of dystonia among those who had injuries and among those treated with certain medications are already areas of study. From these surveys such inquiry seems very useful



Clinical research is uncovering more and more genes and locations on genes linked to dystonia. The links however do not clearly result in dystonia and the other factors that are involved seem less clear. Patients have often noticed within their own families, incidences of tics, neck tilts, tremor, incidences of autoimmune disease and incidence of other movement disorders at  rates that seem higher than in the general population.  These surveys confirm some suspected links.The rates of family member involvement by these surveys seems only a small sample but the trends may be of interest.

            30.56% blood relatives

            13.89% birth father

            13.51% siblings of father

            13.51% grandparents

            13.51% birth mother

            10.81% siblings of mother

            10.81% cousins

            8.11% siblings

overuse and career

The hypothesis  that dystonia is more likely among those who repetitively and intensely use  the same muscles for some movements is supported. However not all who develop dystonia have that past and not all whose careers have fine movements develop dystonia. The other factors involved merit study.

The nature of the career demands  however seemed statistically significant.

100.00% had a job with high stress and responsibility . 

77.14% usually could handle stress before dystonia well,

83.33% tend to be quiet and shy, meticulous and attentive to detail

This personality profile is consistent with the survey results about moods, which suggest that people who develop dystonia are not likely to be complainers, are intense hard workers and are driven to succeed. The standards they set for themselves seem to also lead to high levels of achievement, which likely creates self-esteem linked to this achievement. High achievement is often achieved through self discipline that may have forced the body to work past its comfort level at many times.  

When dystonia strikes, it is reported as a huge change to daily life, based on symptoms alone. It also seems particularly surprising to those who were seen by others and themselves as strong and accomplished.  The fact that so many with dystonia go on to also study it intensely, figure out ways to  work around it, do not complain about it much to others, and fill out long surveys to try to help with research also all matches the personality profile of very hard workers.