Identifier categories
A. Context
Some clinical studies have noticed higher incidence of dystonia among some ethnic groups, for instance Ashkenazi Jewish background or Filipino. Anecdotally patients often notice to their surprise what may seem like coincidental similarities in each other’s backgrounds. One patient reported having heard of a study of dystonia that found higher incidence among people of Nordic descent, who also had personality feature of being very organized, liking to count things and make lists.
With rare and incurable conditions, the desire to find cause and to even see hereditary predispositions in some ways is reassuring. It helps a person not go through self blame for having it, as if they did something wrong personally. However the search for patterns based on family, geography or race is also a minefield for sounding like it is gender bias or racial stereotyping.
It is useful to know if males or females have higher incidence of a condition, from an academic point of view. However an individual male or female patient may not feel particularly helped in their day to day life knowing that statistic. Those who self-identify as nonbinary may not wish to answer the question about gender and even be offended at it.
Research about personal identity and age, gender, ethnic origin is a sensitive area to ask about It may be interpreted by some as an invasion of privacy.
B. What seems useful to study further, areas of mystery
To look for patterns logically it may be necessary to ask questions that turn out to not be relevant to find out which factors are. Nose length likely is not. Eye color likely is not. It is less clear if age is, or whether gender or race are factors predisposing susceptibility to the dystonia. Even if they were found to be patients with higher incidence, the mechanics of that fine detail may be genetic on genes which we cannot get identify. If people who are more allergic, more prone to auto immune disease, more high strung or type A hard working are at higher risk of developing dystonia, there is still often no known gene for some of those traits.
The study of related factors putting some at higher risk of getting dystonia is therefore problematic to study and complicated.
There is risk of mistaking correlation with causation. If more women than men present with dystonia as seniors is that because more women than men have it, or because women are more likely to seek medical attention than are men or because women tend to live longer than men?
If there seems to be higher incidence of dystonia among male guitarists, that may be because there are more male than female guitarists anyway. If incidence is higher in the western world than the east, that may not be because rates are higher but because access to medical care may be easier or because the survey was in a language more used in the west.
If rates of treatment are higher in Canada or the UK than in other countries a key factor may be the cost of care and whether the state has a federal free medical care program or not. If the effect of some treatments like DBS surgery is studied and the cost of who can access it is not factored in, the success rates of it may skew towards those who also have financial advantages for counselling and exercise and massage options than those with lower income. If costs of the treatment options are not factored in, the uptake or choice of pills over surgery may be skewed because pills often cost less than surgery.
However a starting point to see if there are trends is to ask.
It was anticipated that not many people doing the surveys would choose to respond. The surveys were made anonymous to protect identity. No medical history of the patient is known except what the person answering chooses to tell. That information also is not correlated in any way with other questions or traceable to person answering.
Those reassurances however may still not have been enough to convince respondents to answer. That reluctance was anticipated and respected. The entire survey about identifiers was optional and every question within it was also optional.
Those limitations to the survey may have made its results of only limited use. However it was attempted to see if any patterns emerge that researchers later could study more precisely and better.
A patient survey can do things that a clinical study does not have time to do. However a clinical study is able to obtain patient consent to use past medical history and correlate some of the identifying information, to study trends more efficiently.
C. Comments from clinical studies and researchers
A gene for idiopathic torsion dystonia maps to chromosome 9q34 in Ashkenazi Jewish families with early onset of symptoms.
Cervical dystonia most often occurs at middle age, and in women more than men.
Early onset dystonia is at least ten times more frequent among Ashkenazi Jews
Adult onset cervical dystonia has relatively high prevalence in Finland compared to other countries.
D.Comments from patient experience
Isn’t it funny that so many of us are quiet people and workaholic?
I heard a theory that those with cervical dystonia tend to be list makers and like to count things.
E. Results
identifiers
22 28 identifier 7 13 89 1
max no. respondents 28
total questions 13
likely type of dystonia all
percent of all respondents doing survey 22 of 508 or 4.3%
F. 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.age
My age when I started having symptoms of dystonia
3.57% 0-5 years
14.29% 6-10 years
14.29% 11-20 years
10.71% 21-30 years
14.29% 31-40 years
17.86% 41-50 years
14.29% 51-60 years
10.71% 61-70 years
0% 71-80 years
0% above 80 years (22-2)
My age on first getting the diagnosis of dystonia
0% 0-5 years
3.57% 6-10 years
14.29% 11-20 years
17.86% 21-30 years
17.86% 31-40 years
21.43% 41-50 years
14.29% 51-60 years
10.71% 61-70 years
0% 71-80 years
0% above 80 years (22-3)
How long was the delay between first having symptoms and getting the diagnosis of dystonia?
35.71% under one year
28.57% 2-3 years
17.86% 4-5 years
3.57% 6-10 years
14.29% over 10 years (22-4)
2. gender
-gender at birth
7.14% male
92.86% female (22-1)
3. race, ancestry, national , country
In what area did you live when first diagnosed?
10.71% western Europe
3.57% eastern Europe
3.57% southeast Asia
0% India, Pakistan
0% Middle East
0% Africa
71,43% Canada, United States
0% Latin America
0% South America
10.71% Australia, New Zealand (22-5)
In what area do you live now?
7.41% western Europe
3.70% eastern Europe
3.70% southeast Asia
0% India, Pakistan
0% Middle East
0% Africa
74.07% Canada, United States
0% Latin America
0% South America
11,11% Australia, New Zealand (22-6)
Are you of Jewish Eastern European descent?
7.69% Yes
92.31% No (22-11)
Are you Mennonite or Amish?
0% Yes
100.00% No (22-12)
Are you of Filipino ancestry?
0% Yes
100.00% No (22-10)
Are you of Nordic ancestry?
23.08% Yes
76.92% No (22-13)
4. IQ, personality
Have you been told you are quite intelligent, have high IQ or did well in school?
78.57% Yes
21.43% Not really (22-8)
5. right- left handed
Are you right handed?
67.86% I am right handed
14.29% I am left handed
17.86% I can use either hand equally (22-7)
6 weight
Is your weight average for your height?
14.29% I am underweight
60.71% I am average weight
25.00% I am pleasantly plump as they say (22-9)
G. Analysis:
This survey is not very likely to represent the public with dystonia.
Though anonymous throughout, this survey sought general categories to classify those with dystonia according to some hypotheses in clinical research about higher frequency in some demographics. The questions about race, gender, ancestry, handedness are likely useful to ask. However this survey had so little response, 27-or 28 per question, that the statistics are unlikely to represent the general population of those with dystonia for the breadth and diversity of the topic.
The fact that only a few dozen people responded also is of interest since it does suggest that people with dystonia are very private and not anxious to reveal anything much about their identity even by category.
Other studies have asked about delay in diagnosis. This survey confirmed a range though it would have been useful to also know how soon a doctor was consulted after symptoms first appeared because a first delay may have occurred then. The survey did not ask the year of diagnosis and that number may also be relevant since accurate diagnosis has become more common as doctors became more aware of the condition. Other surveys in this set have confirmed that there are still delays once a doctor is consulted, that misdiagnosis is not uncommon for a time and that dystonia is not well known in the medical profession.
The high proportion of women answering this one survey may not be the same as for the other surveys. It may not be representative of the incidence of dystonia in general. However it may suggest that women are more likely to do surveys, or that women are more likely to be willing to fill out categories about ID.
The proportion of those answering who were of Jewish Eastern European descent is consistent with clinical studies that have found genetic links in that population. The question about Nordic ancestry however seems new though the rate reported at 23.08% seems high enough to merit further study.
The questions about nation when diagnosed or current residence are very likely not a fair representation of the general incidence of dystonia. The website hosting the surveys was viewed in 84 countries. Since there are 195 countries in the world, this means that people in over half of them did not even access the website. The number within the 84 that did see it also is likely very dependent on Internet access, on the knowledge of English which was unfortunately the only language of the survey, and on the challenges there were in making it known to those with dystonia that a survey series was being offered.
However, given those constraints, the website did have many views and the surveys seem to have had participation from people in many parts of the world.
The website at http://www.dystoniasurveys.org did not track identity of viewers but it did tell country. There were for instance 217 views from India. It is very likely that some of those viewers did proceed to do some of the surveys but the identifier survey here did not apparently get completed by any of them.
This means that this survey set, is not a very successful set for its purpose. The questions are very useful to ask, but a better means should be considered to ensure higher numbers of respondents in order to reach statistical significance and reflect the demographic more accurately.
Lived Experience With Dystonia 