3. Reasons for the Project
The project was embarked on because not much is known about dystonia and researchers often say they wish they had more data. Patients also express concern about the mysteries of the condition and whether others also are experiencing what they are. It seemed useful to collect the shared questions and see if there was a pattern to answers.
A Dystonia – what is known
Dystonia. Never heard of it? You are not alone. Most people diagnosed with it had never heard of it either. Many family doctors have not heard of it. Yet it puts a label on the painful muscle contractions, the sustained awkward movements some of us have been having for months or years, the ones that have make us look unusual, and make us move in awkward ways. Dystonia is officially a movement disorder.
It has been defined as a syndrome of sustained muscle contractions, frequently causing
twisting and repetitive movements or abnormal postures.
The problem can be very small, just a few fingers that seem to act oddly when you play piano, or an odd thing that happens to your hand when you golf. It can come and go, it can get worse, or better. It can stabilize but just never go away.
Or it can be massively debilitating. A few people have had it from childhood but many got it only as seniors.
It can involve just one body part, the muscles around the eyes, the neck, the fingers, or it can involved several, sometimes the entire trunk. It is scary, unpredictable and for some people very painful. Yet nobody knows for sure what causes it, or where it is headed.
It is such an odd thing. It does not seem to affect major organs of digestion or circulation or breathing and it does not lessen life span. Many people with it are very well medically, except for the muscle thing.
dystonia- what is not known
It is odd because there are times when it is suddenly less. Some people who have trouble speaking because it is in the vocal cords, can still sing. Some people with leg dystonia who have trouble walking, can still run. It seems to be a problem not with the structure of the body but with messaging between the brain and the muscles. And the messaging is not just simply from brain to muscle. The muscle sends feedback to the brain and the error may be in that direction. Researchers just don’t know.
It is odd because people with dystonia at first were mistaken for having a psychological problem, a neurosis, and some were shunned and mocked. When doctors did X rays, CAT scans, MRIs or blood tests the results were normal. So it has been stigmatized in history as if patients were faking it.
Recent studies have however confirmed there are brain chemical oddities going on, electrical message oddities along the nerves, and in genetic studies, sometimes abnormalities of the genes. Yet even that is unclear because it looks like injury or childhood illness or medication alone don’t cause it unless there is also another factor putting the person at risk. A perfect storm, where two things go wrong at once and then, it happens.
There is so much to figure out and we patients are keen to get to the bottom of it too.
Because it is not well understood it is still often misdiagnosed at first, and estimates of it therefore vary widely. Researchers lately suspect it is way more common than was earlier believed. It is apparently 6 more times more prevalent than muscular dystrophy or ALS which are known much better by the public. It is not as common as Parkinson’s disease but it still probably affects over 300,000 people in North America alone possibly over 6 million worldwide. So it’s rare, but not.
It is odd because it may be just a problem with the muscles while your mind is still fine but depending on the muscles, it can really change your day. If it is in the eyes it may change your ability to read, if in the hands your ability to hold a cup, if in the mouth, your ability to chew, if in the legs, your ability to walk. You are well and yet really struggling to get through the day.
The condition is odd because the treatments being used – pills, injections, surgeries, physical therapy – have a spotty track record. They work for some people for a while and then not, or they don’t work at all, or in some cases the side effects of treatment are distressing.
It does not hit randomly and is not contagious. But it cuts across all demographics. It hits church ministers and guitarists, dart players and PhD scientists, school teachers and engineers, baseball players and entertainers. It hits people at the prime of their careers, people at the end of their careers, and sometimes babies.
This condition mystifies doctors for one other reason. As we patients jiggle around to try to find a position that is not painful, we often land on one that is truly strange. We find that if we put our hand against a cheek or jaw or temple or top of the head, suddenly the pain is gone. This ‘sensory trick’ seems to defy logic and yet it is an experience of many patients. It is as if nature really has the answer in us, and yet we can’t access it much.
B What researchers were saying in clinical studies
diagnosis
– At this time there is no test to confirm diagnosis of dystonia
– The consulting room may not always be the best setting for evaluation of patients with movement disorders as many dyskinesias are strikingly situation specific and variable in severity
– The question of whether focal and segmental dystonias are separate and distinct or are forme frustes of generalized dystonia has not been entirely resolved
– There is an absence of validated diagnostic markers
– To examine someone with dystonia they should be observed during performance of the tasks that elicit it, such as typist at a keyboard, musicians while playing their instruments
even within medical circles
– The occurrence of non-motor features has not been as well established or studied in dystonia
cause
– Although risk factors have been identified, the causes of focal dystonia have yet to be determined
– Dystonia affecting athletes has not been researched to the same extent as other dystonias
– 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 possible that breakthroughs in genetics may allow diagnosis of hereditary dystonia more easily.
– Little is known about the case of focal dystonia
– Much more research needs to be done for a better understanding of the brain mechanisms involved
– Neuroimaging studies indicate that any structural changes are minor and that the pathophysiology of dystonia is more likely related to functional changes rather than specific neurodegeneration
– Numerous movement disorders have been too often inappropriately labelled psychogenic. Such a diagnosis not only causes unnecessary suffering but precludes appropriate treatment.
– Relatively little is known about basal ganglia neuronal activity in dystonia
– The cause of pain in patients with cervical dystonia is not known
– The exact etiology of dystonia remains unknown
– The mechanisms underlying peripheral injury-induced dystonia are poorly understood
– 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
– The role of environmental factors causing or contributing to dystona remains uncertain
– There is no way yet to predict whether a person with the abnormal gene will develop symptoms of dystonia
– With hand dystonia it is still unclear where the pain is coming from. The location of the pathology is unclear.
– What goes wrong in the basal ganglia is unknown
scales
– A quantification tool for objective measurement of the extent of musicians’ cramps having a high precision has not been available
– Because dystonia is a dynamic disorder that changes in severity based on posture and activity, the development of reliable rating scales to evaluate it is problematic.
– Further research is needed to develop a valid and reliable instrument to measure cervical dystonia
– It is important to provide some type of rating scale to score the severity of the movement dysfunction
– There are few validated rating scales for dystonia
progression
– Dystonia has a variable nature, making it difficult to predict the prognosis of this disorder
– Musicians should be educated in advance about the risk of occupational dystonia so that they can recognize the condition in its early stages
– Systematic studies regarding long-term outcome of musicians’ dystonia are limited.
– The prognosis of dystonia is difficult to predict
– Dystonia is highly variable in its manifestations
gestes antagonistes/ sensory tricks
– Better appreciation of the sensory trick and the mechanisms of the sensorimotor interactions underlying it may provide clues and open new avenues for treatment
– The mechanism of action of the gestes antagonistes is still unknown
– The often bizarre or apparently inconsistent nature of dystonia has often contributed to the confusion
– The physiologic mechanisms behind the sensory trick are unknown
– The sensory trick has rarely been the subject of clinical, physiologic or epidemiologic studies
– The sensory trick remains a fascinating and poorly understood phenomenon
– The usefulness of the sensory tricks remains a mystery
treatment
– Medications may ameliorate symptoms for spasmodic dysphonia but rarely have a significant effect
– Oromandibular dystonia is among the most challenging forms of focal dystonia to treat. It rarely improves with medication, there are no surgical treatments and botulinum toxin therapies can be complicated.
– The age of the patient, the anatomic distribution of dystonia and the potential risk of adverse effects are also important determinants of the choice of therapy.
– The etiology of focal hand dystonia is still considered idiopathic with successful treatment approaches still considered controversial
– There is still uncertainty as to the ideal patient for surgery, the best target, the degree of benefit, the duration of benefit and the adverse effects for the various surgical procedures. More work and careful observations are required.
– Treatments of writer’s cramp with muscle relaxation techniques, physical or occupational therapy, and medical and surgical therapies have been disappointing.
– Multiple surgical interventions have been performed, many of which have fallen out of favor
– The mechanism of action of deep brain stimulation in dystonia is poorly understood
hurdles to research
– Barriers to study have included perceptions that dystonia is rare
– The condition is probably much m ore frequent than reported
– Dystonia is not a rare disorder but it does remain little known or recognized,
– The population of patients studied has generally been limited in size and in geographic location
value of patient history
– Many cases of secondary dystonia have no diagnostic, radiologic or serologic marker so doctors have to rely on information from the patient’s history or subtle clinical findings
– Any long term assessment of patients with dystonia must take into account the natural history of the disease
– Studies require accurate and detailed evaluations of the past histories of large number of patients
-To objectively assess the response to various therapeutic interventions, it is critical not only to use appropriate rating scales, but also to take into account the intervention’s effects on activities of daily living and quality of life.
and in general
– Dystonia has been misunderstood for a long time
– More work is needed to further our understanding
– We are still in a period of living history with dystonia, with much yet to be understood about pathophysiology
– We still have a long way to go
D. What patients were saying
Some with dystonia have had the courage to write books about their journey, all very moving books. I want to thank in particular Cher Tannenbaum, Rev. Mike Beck and Beka Serdans. R.N., whose words reassure patients about this condition.
Patients have set up foundations, taken part in fundraisers, put their hearts out there to provide money to support research. The foundations support research that has led to exciting discoveries about genetic links, possible causes, effects of treatments. We’re getting there but there is so much more to learn. Here is a small sampling of comments from patients about research into dystonia.
I’m tired of having a body that won’t listen to me
It’s very frustrating
I would like the world to know what dystonia is
We need more research
We need more awareness and education
It is a rare condition and people need to feel they are not alone
There are very few books dealing with the emotional aspects of living with dystonia
It seems like many trained professionals in medicine have never heard of dystonia
Discovering what is normal for this abnormal condition can be liberating
Most health professionals are unfamiliar with dystonia
Most laymen have never heard of dystonia
Bloggers have expressed great concern about their condition and a strong desire for reassurance and confirmation about their symptoms.
Has anyone had this happen?
Has anyone tried ..?
What do you all think of ..?
Maybe you can tell me what your experience is with..?
Does anyone here have advice for me?
Just wanted to know of anyone every had this medication?
I’m wondering if it could be my meds.
Does anyone have this issue?
Tell me the good, the bad and the ugly
Maybe some of you can help me with this
And I read ones like that that touch my heart:
I could do it if I had just one person . but I have zero.
Sleep right now would be incredible
I just feel so stiff
I’m tired of having a body that won’t listen to me
I’m not digging the side-effects
My doctors have no clue and wanna call me crazy.
It’s very frustrating
Good morning, warriors!
E What patients can do to help researchers
Researchers do wonderful clinical trials and some of us are part of them. But patients have complicated daily lives out here and clinical trials may not be able to capture what a day is like. There is now acknowledged to be a second type of medical research, not clinical trials, but natural history – the lived experience of the patient. It has proven useful in leading to better diagnosis and treatment of many illnesses already. It does not replace but can supplement clinical study. So the purpose of this project is to collect some of the data that researchers wanted and patients were anxious to help provide.
Medical specialists are time-strapped. They want to help patients but a short appointment is not going to reveal all patients could tell them. Patients can however collect data efficiently through surveys, from our homes, at our convenience. With our input researchers may see patterns we alone could not see and ones they alone will understand. These patterns may reveal mysteries to help undesstand dystonia, possibly other movement disorders, and possibly even the connections between the brain and muscles in everyone.
That then is the goal of the project – pure science. Patients want to help.
Biography of Researcher
Beverley Smith has a bachelor of arts with distinction degree from the University of Calgary and is a professionally certified high school teacher. She has training in statistics, questionnaire and test writing and has taught math, science, English and second languages at all levels of the school system K-12. She has no medical training but a keen interest in research standards and the ethics of science.
She contracted cervical dystonia in 2016 and has done extensive research on it for her own use consulting textbooks, clinical studies, and biographies of fellow patients. She has taken part in webinars and conferences, been a subject in clinical trials and joined several support groups. To share material already available to the public she has put information all in one place on a public website. http://www.dystoniasurveys.org
She is married with four children and seven grandchildren. She has no affiliation to any commercial interest and the surveys give no medical advice. She can be reached at bevgsmith@gmail.com
Lived Experience With Dystonia 