TITLE Lived Experience with Dystonia -surveys part 2 – nonmotor aspects
CITATION- Beverley Smith, 2021, “Lived Experience with Dystonia “-part 2
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 patients 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. There were 48 optional surveys on pain, appearance, symptoms, symptom progression, movement, sensory tricks, effects on daily life, medical tests, treatments and effects, 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)
In 2011, Evatt observed that dystonic movements usually disappear during sleep. (8) Other research suggests that the dystonia remains active during sleep, and often impairs sleep.
In 1991 Sforza found impaired sleep efficiency, reduced REM sleep, less abnormal muscle activity but disordered hypnic pattern. (9) In 2010 Avanzino found impaired quality of sleep in those with blepharospasm or cervical dystonia. (10) In 2014 Eichenseer found that botulinum toxin injections did not improve sleep quality.(11) In 2015 Herenstein found that during sleep dystonic movements are fewer and of less duration. However sleep was even more closely related to quality of life than was severity of motor symptoms. (12) (13)
The surveys confirmed that dystonia still exists during sleep. It may be useful to determine what aspects of dystonia continue and which are alleviated – muscle tightness, urge to seek a body position, pain, or tremor.
Level of sleep may matter. Finding a sleeping position without pain or jerking is reported as difficult. In REM and deep sleep the normal temporary paralysis may be useful for dystonics. However most patients reported problems staying asleep which suggests that over the 4 stages of sleep, 70-120 minutes per cycle, stages 1 and 2 may be problematic each time they come around..
In the surveys 61.11% say the pressure is less when they lie down, and 40% say their spasms, pain or muscle tightness are less in deep sleep. 26% report their jerky involuntary movements are less in deep sleep.
However getting to sleep is a problem. 38.46% report they arch their arm over the head, 38% say they change sleeping positions to avoid pain, 33.33% say it is hard to lie flat because the body wants to arch.
Sleep is disrupted with 50% reporting that some sleeping positions lead to spasms or pain forcing change of position. 25.81% report they wake more often due to pain or spasms and 19.05% say they sweat more in their sleep.
Reduced sleep quality has a profound influence on body function. The body gets less of the benefit of slowed down heartbeat, respiration or fewer demands to use glucose. There is less chance for the brain to organize information, get rid of toxic waste, produce melatonin or to activate the amygdala to handle stress. Prolonged lack of sleep leads to overactivity in the striatum, hippocampus, insult and medial prefrontal cortex and can result in poorer concentration, higher blood pressure, poorer memory and weaker immune system. The normal effect of loss of sleep impairing motor function may be exacerbated for those with dystonia. This suggests that lack of sleep may be an explanation for some problems previously labelled as psychiatric.
Treatment for dystonia often includes pills for anxiety. Researchers have admitted that benzodiazapines often impair sleep and that some antidepressants suppress REM dream sleep. Some treatments, though well intended, disturb the continuity of sleep, reduce sleep quality, lead to dizziness or daytime drowsiness.
35.29% of respondents said pain medication makes them sleepy, 25.58% say they close their eyes more on some medication, 11.76% say pain medications make them dizzy. 6.90% report that some treatments lead to vivid dreams.
However imperfect the sleep, it often can produce a brief respite from dystonia, experienced on first waking. Some researchers have called this a ‘honeymoon’ period. The surveys confirm this effect. 37.50% say a daytime nap helps them and 37.50% say that when they first wake up the dystonia seems gone.
At rest the body makes lactate to combine with oxygen to give energy.. Some research suggests lactate also fuels brain neurons. When the body is exercising intensely lactate gets used up faster than it gets replenished. When that happens to athletes, the body sends in a fuel that does not require oxygen, lactic acid.. In 1808 Berzelius discovered that lactic acid is produced in muscles during exertion. This acid is ten times more acidic that acetic acid. When it builds up to high levels, the athlete has to rest to replenish the system. However with dystonia, the muscle is overworking constantly. It may be useful to study whether there is build-up of lactic acid. Some patients have noticed clicks in the dystonic muscle that sound like gas popping. One 2015 study found that when antipsychotic drugs are used, lactate levels can be affected. It may be useful to study if that is the route that created dystonia in some patients. (14)
Patients report several useful strategies for sleep that are not pills 87.50% use a special pillow, 75.00% prefer silence, lights off, 25.00% say when they can’t sleep they write down new ideas.
2. rhythm, music
Research has noticed links between rhythmic activities and dystonia. The delay in motion due to gating can impair ability to tap the feet, clap the hands or sing along with the radio It seems that matching a set rhythm, dancing with a partner, or singing in a choir are difficult, but that setting up the patient’s own rhythm permits accommodation of delays with more ease.
The surveys confirmed these effects. 66/67% say it is difficult to dance, 40% that they can no longer sing along to the radio or for pleasure, and 33.33% say it is hard to stomp their feet rhythmically.
Some patients report that that the pain of dystonia is not immediate in any new body position. Pain is absent and then augments till about 45 seconds have elapsed, at which point the person feels a strong need to shift position. This brief absence of pain may explain why people with dystonia frequently shift body position.
Using muscles rhythmically, bouncing, hopping, doing jumping jacks, or dancing alone, a person is always within that window of nearly no pain before 45 seconds elapse and any given position becomes painful. 21.88% say that dancing reduces the dystonia and 12.50% that walking is easier if they bounce or dance. This may explain the efficacy of several sensory tricks.
In 2012 Kojovic found that one patient with dystonia showed dramatic improvement in symptoms when playing piano, even when the electric piano sound was turned off. (15)
Other aspects of sound production may also be relevant. Volume, pitch and emotional tone seem factors in several sensory tricks.
The surveys confirm that for those unable to speak in normal voice, yelling may still be easy, suggesting that the body instructs for volume along a pathway that may not be affected by dystonia. Patients report a normal voice when they speak baby talk, or to their pets or grandchildren, suggesting that the instruction for mood, intent and playfulness may be along a pathway not affected by dystonia. Patients report that the dystonia is reduced if they speak falsetto, in a foreign accent or in a cartoon character voice, suggesting that pitch regulation may also be along a pathway not affected by dystonia. Some who cannot speak well report that they can still sing. This may suggest that in the brain the linking of sounds into melody is along a pathway not affected by dystonia. The phenomena of music suddenly reducing symptoms has also been observed in patients with Alzheimer’s.
75% report that their laugh is still normal. 75% say they have trouble speaking but can sing well. and 40% say that reading aloud is easier if they sing the words. 20% report dystonia is less if they hum and 25% say they can still whistle.
3. impact on daily life
Patients report difficulty getting approved for disability benefits, as if the general public is not aware of the impact of some dystonias on daily life.. Research studies have found significant impact on daily life but have not looked at it as specifically as these surveys attempt to do.(16)
The surveys found impacts in the areas of energy and sleep (66.53%), career (57.70%), mobility (51.54%), hand dexterity (45.17%), speech (42.51%), eating (36.34%) dressing and bathing (27.52%) and mood (78.85%)
Particular impacts included cost of medical care (78.57%), tripping more often (62.50%), interference in favorite sports or hobbies (77.33%), difficulty sitting in a theatre to watch a movie (58.69%) difficulty balancing while dressing (41.49%), difficulty washing hair (40.43%).
Social effects include difficulty looking at, speaking with, eating with or walking with others. 75% hesitate to greet people, 61.11% find it hard to form words to speak, 28.09% are reluctant to be seen in public and 21.35% are not comfortable being interviewed on TV. These challenges provide logical explanations for social reluctance and it maybe inaccurate to diagnose such patients with social phobia, a mental health condition.
4. effects of treatment
The most common medical treatments for dystonia are physical and occupational therapy, pharmacologic oral medications, chemodenervation with injection of botulinum toxin, and surgical intervention such as deep brain stimulation. Some treatments aim to relax muscles, others to reduce pain or tremor, and others to adjust neurotransmitter levels in the brain. (17) (18)
Studies have admitted challenges in fine-tuning treatment since there is wide variability in results. A given pain medication may be useful for spine pain but not neck pain. Injections of botulinum toxin yield inconsistent results between patients and for individual patients the body can build up resistance to the toxin. Surgeries and deep brain stimulation yield positive results for some patients and little benefit for others. The surveys attempt to trace patterns.
In addition patients report that unintended side effects can be significant. Researchers admit some of these risks. Anticholinergic medications can impair memory and lead to confusion, restlessness and blurred vision. Muscle relaxants can lead to dizziness, dry mouth and increase of blood glucose. Benzodiazepines can lead to confusion, impaired coordination and depression. Atypical antipsychotics can increase risk of seizures. Side effects for botulinum toxin can include dry mouth, dry eyes, fatigue, swallowing difficulty, heartburn or constipation though most of these resolve over time.
A third problem is that some medications have been found to increase risk of developing dystonia. Dopamine-blocking agents have potential to induce tardive dystonia. However during episodes of severe dystonia attack or storm, medical intervention has also been life saving. (19)
Patients express concern about the dilemma they are in, trying to find a treatment that works without negative consequences. Questions surveyed patient experience with treatment. Researchers are well aware of some of these concerns and are trying to address them but more study would be useful.
70.96% say treatment reduced spasms, 62.50% that it improved quality of life, 55.56% that they feel more comfortable socially, 54.84% that they have less pain.
However 66.67% reported that after treatment they had memory problems, 61.54% drowsiness, 44.83% dry throat, 37.93% muscle weakness. 29.41% report that pain treatment did not end the dystonic pressure. 66.67% said pain treatment did not reduce muscle tightness.
5. mental health and stress
Few treatments seem to alleviate all of the symptoms. Patients would like relief of pain, pressure, muscle tightness, tremor, and improvements in sleep and daily function. The symptoms were discounted historically as bizarre and psychiatric The frustration patients felt was often mislabelled mental illness
In 1860 Ludwig Traube called some dystonia nervous hoarseness. Meige in 1900 said patients lacked psychical equilibrium and a common label in 1902 was that dystonia was hysterical spasm. In 1911 Ziehen found that the actions did not seem hysterical. In 1970 Marsden found an organic cause to dystonia, using electrophysiological study. In 1975 the First International Symposium on Dystonia classified focal dystonia as a movement disorder not a psychiatric functional dysfunction and later genetic studies found links to dystonia. (20)
In 1989 a gene linked to early onset dystonia was mapped. It was later called DYT1 and found to code for a protein called torsin A. (21) Since then genetic links have been found for several forms of dystonia.
Duane found that the pain of dystonia likely has an effect on mood, that some medications make performance worse and studied whether these changes affected cognition. (22) In 2009 Soeder found higher than normal rates of depression, anxiety, social phobia and mild deficits in executive function. (23) In 2013 Zurowski said that psychiatric disorders are common in patients with dystonia, studying anxiety, social phobia, and deficits in emotional processing. (24) In 2020 Simonyan developed an MRI diagnostic tool that for the first time could detect dystonia. with 98.8% accuracy. Researchers identified a new microstructural neural network biological marker of dystonia. However the fact it is real not imaginary did not solve issues of sadness dealing with the condition. In 2021 Worthley found higher than normal rates of suicidal ideation and suicide attempts in patients with dystonia. (25)
Some research studies suggest that the pendulum keeps swinging, from thinking dystonia is imaginary, to 1975 thinking it is all physical, to returning to the idea it is linked to underlying psychiatric disorders. This swing back may be inappropriate based on the patient surveys.
Patients are dealing with a significant level of disability, often intense pain, muscle tightness and relentless physical challenge to daily function, and face uncertain prognosis. The surveys reveal a significant emotional journey for patients but that patients are often creatively dealing with a situation they cannot change..
Many patients are on medication for mental health. Some find it useful, some not and some find the medications create new problems. Some report that rest, comfort measures social support are as useful as is medication.
Respondents reported many stressors including difficulty concentrating due to pain (80.77%), feeing unattractive (77.78%), irritation that the condition is not cured yet by science (75%), worry it will get worse (74.08%), anger at the body (44.44%),
However many reported coping strategies that help. 88.89% say they still feel then can work out their other problems 83.33% say they set boundaries so people hard to deal with don’t upset them, 76.27% report there is someone close to them whose loves touches them profoundly. 62.50% say they permit themselves a pity party occasionally
6.. links to possible causes
Genetic links have now been identified for several forms of dystonia. It is known that trauma, brain injury and medication can lead to dystonia. However there is mystery. Not all with the genetic profile develop symptoms and not all who take the medications in question develop dystonia. The mysteries about cause are crucial to solve.
In 1976 Cooper examined patients with dystonia musculorum deformans and noted higher rates than normal among the Jewish population. Some had had a significant viral infection within 3 months before developing symptoms. (26) In 2004 Martino looked at family history.(27)
Patients are as mystified as are doctors about why they got dystonia. The surveys examined patterns of self-reported past- history. To determine if these rates are linked to dystonia would require seeing if these rates are higher than in the general population.
50% had lived or worked near a factory with toxic chemicals, 16.67% had been bitten by a black spider or tick or had lyme disease. 33.33% have irritable bowel syndrome, 34.78% respiratory allergies, 26.90% food or skin sensitivities. 23.68% had childhood measles. 28.21% childhood mumps,28.95% frequent infections in childhood. Incidence of vaccines for polio (83.33%), diphtheria or tetantus (83.33%), measles, mumps, rubella (66.67%) shingles (33.33%) were reported
41.03% had had a whiplash type injury, 37.84% a back injury, 20.51% had had a motor vehicle or sports injury with head trauma. 16.67% had had a stroke. Before diagnosis 50% had been given pills for anxiety or depression, 33.33% had been given antidepressants, 27.03% had just suffered a huge emotional loss.
The surveys also looked at other aspects of dystonia, including what types of technology patients would appreciate to measure their symptoms. There was a separate study of the orientations of dystonia, and its presentations to tilt left or right, forward or back, muscles curved or stretched, to have eyes open or closed, vocal cords open or closed and to hypothesize about whether such differences of orientation may be linked to handedness, or early childhood side weakness. There was a separate study of commonalities of dystonia with other movement disorders.
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, having added to the groundwork laid by 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.
Dystonia Europe Survey (dystonia-europe.org)
2019 – Dystonia Europe announces survey through Ipsen and Carenity asking patients in Germany, UK, Italy and France about experience with botulionum toxin A injections
Cervical dystonia: a survey of patients’ experience with botulinum toxin type A injections – Dystonia Europe (dystonia-europe.org)
2019- Dystonia Canada conducts Wellness Survey about daily experience.
2019 Dystonia Wellness Survey Results | Dystonia Medical Research Foundation Canada (dystoniacanada.org) It has 8 questions
2017- Dystonia Medical Research Foundation, supported by Merz Pharma surveys 613 patients about botulinum toxin.
Real Patients Real Answers_Dystonia Report Final_0.pdf (dystoniacanada.org)
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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