TITLE Lived Experience with Dystonia surveys- part 1 – motor function
CITATION- Beverley Smith, 2021, “Lived Experience with Dystonia ” part 1- movement
NAME OF AUTHOR/ PRINCIPAL INVESTIGATOR
Beverley Smith, B. A. with distinction ( U Calgary)
AFFILIATION/ SPONSPOR none
classification: This is an international online anonymous survey
of patients designed by patients with dystonia. Questions were selected
based on clinical studies, patient biographies and informal discussions
of patient experience. It is a natural history project designed to
assist and provide a database for future clinical studies.
eligibility criteria: Patients with a diagnosis of dystonia were invited to participate.
study start date: May 4, 2020
study completion date: May 4, 2021
A website was set up and widely advertised.
It outlined history of the condition, types, resources and had links to 48 short
optional surveys on various aspects of the condition.
Survey platform Survey Monkey provided statistical analysis of the response and
ensured anonymity of respondents
Other surveys of dystonia have been done examining effects on daily life, sexuality, employment, treatments and moods. None however has attempted this broad a range of questions. (1) (2) (3) (4) (5)
This was a comprehensive survey asking over 3,000 questions about dystonia, in 48 optional surveys. Topics included pain, appearance, symptoms, symptom progression, movement, sensory tricks, effects on daily life, medical tests, treatments, effects of treatment coping strategies, moods, links to possible causes, and technology. 1868 separate surveys were completed. The website was viewed in 85 countries.
Dystonia is the third or fourth most prevalent movement disorder, behind essential tremor and Parkinson’s. Soeder in 2009 estimated prevalence at 730 per 100,000 (6) Cloud in 2010 estimated there are over 3 million people worldwide with dystonia (7)
Sensory tricks are episodic maneuvers reducing dystonic muscle contraction, tremor or posture. They have been observed for centuries.
(8) (9) (10) (11) (12)
The surveys confirm presence of sensory tricks. 58.62% of respondents. 51.72% report that the trick reduces tremor and 58.62% report it loosens tight muscles.
Studies have identified five types of tricks:
a. classic trick- noted in 1894 by Brissaud, 1901 by Dsetarac, 1902 by Meige. It involves touching hand to chin, nose, forehead, back of head, or front of ear to reduce neck tightness The direction of the push is not always against the dystonic direction.
The surveys confirmed tricks produced by touching forehead 9.26%, cheek 44.44% temple 11.11% , chin 40.74% back of head 24.07% . The surveys also found effects touching thigh 37.00%, eyebrow 5.56%, back of neck 37.04%, waist 14.29%, crown of head 5.56%- 14.29%, any skin 11.11%, or touching the web between first finger and thumb 14.29%
b forcible trick – noted in 1837 by von Jager . Patient uses the hand to physically adjust the head.. The surveys confirmed 29.42% – 76.47% use their hand to position their head
c. imaginary trick – noted in 1902 by Meige. A patient reduces neck tightness when not quite touching the left ear. In 2015 Pavel suggested that imagining the trick activates brain patterns and premotor structures similar to those involved in doing the trick. The surveys found incidence at 3,92% when not quite touching the area, 3.92% when thinking of touching the area. The term ‘imaginary ‘ suggests fanciful however and a more useful term may be anticipatory or remembered. Generally anticipatory reactions occur as people rush to hug a loved one, suggesting that the brain predicts future feedback from successful motion and starts enabling it. The trick could be named remembered where a former effect is recalled. This may be similar to the situation when hearing a song from childhood elicits memories of a childhood place. (13)
d. reverse sensory trick. A trick that reduces dystonia for some makes it worse for this patient. The surveys confirmed such situations. A negative effect of nearby vibration was reported by 25.00%, of exercise by 20.60%, of swimming by 50.00%, of having a nearby fan circulating air by 9.68% It may be useful to study that these reverse sensory tricks involve repetitive rhythm.
e. atypical, bizarre trick – The dystonia is reduced while doing an activity that seems unrelated to the dystonic muscle motion. It was noted in 1901 by Dsetarac from a patient putting right hand on hip, in 1911 by Oppenheim from putting left hand on left knee or one hand on hip and the other on the top of the head. It was noted in 1984 by Fahn from hopping or walking backwards, in 1984 by Wiener from vocalization during facial dystonia, in 1996 by Molho from dancing, in 2013 by Boyd from tonic left eye deviation, in 2015 by Filip from biting shirt collar
Surveys confirmed reduced dystonia by raising arms 14.29%, deep breathing 28.00%, singing and dancing 26.73%, doing jumping jacks 10.00%, whistling 6.00%, counting backwards 4.00%,walking backwards 6.00%., bouncing a ball then running after it 6.12%.
Some reported that despite speech impairment, ability to yell is normal 28.57%, singing is normal 42.86%, foreign accent or falsetto speaking are normal 14.29%
The surveys suggested 3 additional categories of tricks:
f. lower resistance to gravity. In 1830 it was noted by Bell in a patient leaning their head and shoulder against a wall, in 1894 by Brissaud in a patient resting their head against a pillow and in 1896 by Thompson in a patient holding arms over the head to cup it. The surveys confirmed that patients lean on supports to reduce dystonia. 27.27% lean against a wall when standing, 37.50% lean on chair backs when sitting, 61.11% say pressure on neck is less when they lie down.
g. voluntary assist Dystonia is reduced by intentionally using nearby muscles. In 1850 Duchenne noted the patient shrugging all neck muscles. Surveys confirmed that 36.36% reduce dystonia by shrugging shoulders. 14.29% reduce neck dystonia by raising arms
h. involuntary assist – Dystonia is reduced when a nearby body part assists without conscious direction. 56.25% report that their body does a second motion to assist. 14.29% report that to lift their head they notice they close their eyes, 14.29% that they scrunch their nose,14.29% that they open their mouth.
The use of mouth gestures to assist motion may merit study. It is seen in artists doing fine work and in weightlifters hoisting heavy weights. Mouth opening seems a common feature of movement disorders as patients try to achieve desired motion.
2 motion, speed, delay, reflex
Studies have examined delay in movement preparation, delay at the ‘go ‘stage of gating, delay in reaction time and delay in movement execution. (14) (15) (16)
The surveys confirm there is slower motion or delay. 73.33% report jerky muscle response, 60% report delay opening eyes, 25% delay closing mouth and chewing.
The surveys confirm delay at the movement preparation stage and gating. 47.06% reported delay between asking the muscle to move and it moving and 29.41% said the delay happens after the firing gun as they try to move
The imaginary sensory trick phenomenon suggests when the brain directs a motion, it also registers feedback to expect when that motion is achieved. This anticipation sets in place during premotion planning some of the same pathways as will be activated when the motion is completed.
Blink reflex has been studied. (17) The surveys found exaggeration of reflexes. 41.18% said they react more to sudden noises and 47.37% say their reflexes are overly active.
3. movement or positional disorder
Dystonia is defined as a movement disorder with sustained muscle contractions, abnormal postures and repetitive twisting movements. The emphasis on odd movements however seems less appropriate for patients who experience dystonia as odd postures. (18) (19) (20)
Whether dystonia exists at rest or is activated only during motion, has been studied. Patient reports vary, some saying spasms start only after a motion has been happening for a while, and others reporting spasms when the motion is completed as the body moves back to dystonic posture.
The surveys suggest that knowing what aspect of dystonia is being discussed may be relevant. Pain, muscle tightness and the urge to tilt seem to exist even when at rest. Spasms, jerking motions and click sounds are reported during motion. 52.94% report that it feels like a vice is pushing them into a position, and 24.53% say they lock into a position and can’t move out of it.
The experience of Olympic weightlifters to start to shake as the weight becomes heavy may be comparable. The experience of tremor and relief after a close call car accident may be comparable to the spasms after a difficult motion is over, relief spasms. 25% say tremors happen before or as they start to move, 31.25% say tremors happen as they try to hold a nondystonic position and 35% say tremors happen as they settle back to dystonic position.
Spasms indicate lack of smooth muscle movement on command, and seem an error. Some patients however report the experience not as how poorly the body is doing but how hard it is trying and sometimes succeeding. The surveys suggest that spasms may be evidence of the body fighting dystonic impulse with some victory.
4. surround inhibition
When the brain instructs to lift one finger the other fingers are instructed not to lift. When the arm is instructed to bend, it cannot simultaneously extend. Dystonia has been hypothesized as a failure of surround inhibition resulting in excess activation of muscles that are not supposed to be responding.
In 2004 Lim found in pianists with dystonia, overactivity in the sensorimotor area of the brain prior to movement. It was suspected that this is due to dysfunction in the basal ganglia. (21) In 2004 Hallett also found the abnormal movements result from loss of inhibition (22).
The surveys support some of this hypothesis with patients reporting random unwanted motions especially jerks or flailing. However many patients report the reverse. Normally when a person lifts one finger, the nearby fingers also slightly move as if ready to assist if needed. In dystonia, the nearby fingers do not make these slight motions. The dystonic muscle is left to handle the task alone, which suggests that dystonia is an excess of surround inhibition.
The preparedness of nearby muscles suggests that the brain normally directs muscles not just to perform motions individually but as a group to reach the goal somehow, with other muscles helping if required. Generally this happens when lifting a weight. The surveys confirm that other muscles seem to be trying to help. 56.25% say the body seems to assist a muscle that is struggling, 50% that they are voluntarily doing a second motion to help make the desired one.
In cold weather the brain sends extra blood to the skin surface to keep it warm, but after prolonged exposure to cold, the brain sends a new message to stop sending blood to the surface, and to retain heat in the core, leaving a surface area if necessary to freeze. It may be that in dystonia the prolonged error of one muscle is left as a local crisis and other muscles do not try to assist that muscle but more generally are activated to still meet the goal. The weak muscle cannot be counted on and the other muscles do what they can to assist, but to an observer this may appear as misuse of other muscles.
Enlisting help from nearby muscles may explain both the voluntary and involuntary sensory tricks. 38.42% say they tense their jaw in pain, 25.79% that they scrunch their eyes in pain, 14.29% say that to lift the head they open their mouth, close their eyes or scrunch their noise. 14.29% say that raising their arms makes it easier to walk.
5 voluntary or involuntary
Dystonia is defined as involuntary, as excessive prolonged activation leading to inappropriate motions or postures (23) It was suggested that dystonia mostly happens when a person tries to make a voluntary movement and involuntary movements result. (24)
The surveys confirm some patients experience involuntary motions or positions.
94.59% say some muscles do not seem under their control, 94.12% that a muscle is tight when they want it relaxed, 82.59% that a muscle is moving when they want it still. 53.85% report it is hard to stay still because the body is always jerking, 46.1% say their hand often involuntarily clenches, 30% say an arm will sometimes flail out on its own.
However what patients experience is not always described as involuntary. Many report that they are constantly trying to correct for the dystonia, so the motion an observer sees is due to both the dystonia and the effort to work around it. The result appears jerky. 92/86% say it is hard to find a position free of pain so they keep moving around to find one. 78.57% say when standing they shift their weight back and forth to stabilize themselves.
The surveys found that some involuntary movements happen when the person is asleep so they are not activated solely by voluntary movements. The fact that the classic sensory trick is often in the same direction as the dystonic pressure, not against it, may even suggest that the trick is a brief respite from the body’s intense resistance to dystonia.
6. muscle or brain, sensory or motor
Researchers have studied where the problem lies in dystonia: the brain, the muscle, the messaging brain to muscle or muscle to brain. There is active discussion about whether dystonia is a sensory disorder or a motor disorder.
One hypothesis suggests that dystonia is a defective registering of sensation/ Some research suggests impairment of proprioception. In 1997 Grunewald found abnormal perception of motion but not of position (25) In 2000- Bara-Jimenez found defective spatial discrimination (26)
The surveys do not fully support that there is sensory deficit. 91.89% have no problem sensing if something is hot, cold, rough, sharp or smooth. 78.95% say that when they are awake they are always aware when parts of their body are moving. 66.67% report they sense location as well as ever.
The ability to sense the position of rice in the mouth, coins in the hand or a handle on a cup does not seem impaired but ability to manipulate muscles around them is. This fact may impede testing of sensory perception.
The fact that people with dystonia bump into things as they walk, or experience balance problems and dizziness may to an observer look like they have lost a sense of what is upright. However the surveys suggest the impairment is in control of muscles to stay upright. 52.76% have trouble going up and down stairs and curbs. 50% sometimes step backwards to regain balance. 41.67% say as they first get up from sleep they are wobbly.
The inability to do what the brain wants to do is reported as frustrating, unlike possibly for an inebriated person who may be wobbly but not fully aware of this or concerned about it. The fact the motion does not match the intent is upsetting to patients and this may explain the volatile nature of the N30 level.
The surveys suggest that wobbly gait and dizziness may partly be due to medication or to inability to look straight ahead due to the dystonic tilt. 25.13% report dizziness so severe they have to grab for furniture. 13.64% say they sometimes have double vision if they look at things from certain angles. 9.55% say they are dizzier on some medications.
The phenomenon of dystonia occurring in an adjacent muscle when a dystonic muscle is immobilized has been studied. In 2004 Ryuji Kuhi suggested that dystonia is not based on individual muscles but on a body image where any muscle can be recruited to attain the abnormal posture. He suggests that the abnormal program is written in proprioceptive sensory language. (27)
The patient surveys confirm the persistence of the dystonic message. However they also indicate persistence of the effort to work around the dystonia to achieve the desired motion. The jerks and delays that appear to an observer as flaws, to patients seem successes at getting the food swallowed or the pathway walked, however imperfectly.
If the brain in premotion planning is also instructing end goal anticipation, this explains the imaginary sensory trick. That trick begins motions of anticipated success when reaching the goal, or remembers earlier successes of that motion.
When a dystonic muscle is tight, patients report that they sometimes cope by priming the muscle, reminding it of its range of motion by briefly doing the opposite of what is asked. Patients trying to unstiffen a finger find they are flexing all their fingers as if to remind that muscle and that brain pathway what the motion feels like. People having problems swallowing report they sometimes have success by spitting out the first gulp and then the next gulp is easier to swallow. This priming can also be seen when patients to chew food open their mouths widely. Exaggerated mouth opening and chewing are seen in other movement disorders and may have the same explanation.
A full copy of the text is available on request. It is 622 pages long.
The surveys provide a broad database of patient experience with dystonia. The intent of the collection is to assist researchers in better understanding the condition and to see patterns otherwise not easily identified. Those who completed the questionnaires were made aware of the sole intent of advancing science. Participation levels were high despite significant physical challenges for some respondents. Many reported gratitude to have been asked. It is hoped also that this database will save researchers time, adding to the groundwork laid by their years of clinical study.
The author is grateful to the patients who filled out these questionnaires, especially recognizing the challenges dystonia can present in doing so. The author is grateful to those with dystonia who wrote autobiographies and have gone public with this condition to raise public awareness and to those who made personal contact to encourage the project. This work is indebted to the work of clinical researchers who have tried for so long to unravel these mysteries and whose studies share honestly their progress in doing so, and to those medical experts who have expressed encouragement of this project as part of solving the puzzle. This work would not have been possible without the amazing technology of the Internet, or without the love and support of family.
Conflict of Interest – There are no potential conflict of interests regarding this paper.
2021- current online international survey by Dystonia Europe surveying sexuality and dystonia. It has under 40 questions asks age, gender, marital status, sexual orientation and questions about intimacy and dystonia.
2019 – Dystonia Europe announces survey through Ipsen and Carenity asking patients in Germany, UK, Italy and France about experience with botulionum toxin A injections
2019- Dystonia Canada conducts Wellness Survey about daily experience.
2017- Dystonia Medical Research Foundation, supported by Merz Pharma surveys 613 patients about botulinum toxin.
2017- a study of possible dystonia among musicians in Japan.
Of 1300 people asked at 41 conservatories, 66 responded. The survey had 28 questions asking about experience with the condition, coping mechanisms and treatments. (1)
2015 -International Survey of Patients with Cervical Dystonia
1071 patients in 38 countries were asked 42 questions in an online survey in 2012, about whether there was pain, impact on daily life, sleep, goals of treatment, types of and effect of treatment. It asked 42 questions. (2)
2014 – a study in Japan of the effect of dystonia on employment
2010 – Natural history and biospecimen repository – an ongoing study
The Dystonia Coalition recruits about 400 patients per year for a longitudinal study of several types of dystonia. It requires clinic visits and lab tests and issues a questionnaire about psychological effects and impact on daily life
2005-Beth Israel Dystonia Screen (BIDS)
a computer assisted telephone interview to screen for cervical and cranial dystonia
based on data from 193 individuals in 16 families (4)
2002 – study of quality of life and depression for those with cervical dystonia and dystonia affecting the eyes – 220 patients from 8 clinics in Austria (5)
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