Medical consultations and tests
Diagnosing dystonia has had a long controversial history. The condition has been noticed, misunderstood, labelled, relabelled many times. Even today patients experience a wide range of frustrations along the way to getting a diagnosis, with frequent reports of misdiagnoses that it was simply due to stress, anxiety, fatigue or hysteria.
Some patients report that the condition still is not readily diagnosed and that most medical test results came back as normal. Dystonia does not appear on X rays, CAT scans, blood tests and until just recently there was noevidence of it on MRI.
Recent discoveries of genetic links to some forms of dystonia have added to the relief patients express that there is now some proof of the condition. Patients also report that the discovery in 2020 of MRI evidence of dystonia has similarly given hope that they will be more readily believed.
B. History of diagnoses and tests
Here is a brief history of the struggles doctors and patients have had in trying to understand this condition.
460- 370 BC
Hippocrates- writes of someone with a stiff and painful neck and about manipulations of joints, massage and traction on a wooden table
He refers to contraction of tendons and jaws though it is not clear if
he is also referring to tetanus conditions.
129 AD- 210 AD Galen physician discovers 7 cranial nerves, saying that sensory and motor nerves are different.
175 AD Celsus writes of rigo cervicis. he described a condition where the head was
drawn down to the shoulder blades and the chin to the chest
1536-1614 – Felix Platenus, a Swiss physician, writes of a spasm with head turns to left or right
1700 -The condition was called for a while shaking palsy
1713- Bernardino Ramazzini ( 1633-1714) notices the muscular fatigue
that shows in some handwriting, writer’s cramp. He says it is not
spasms but muscle fatigue.
1817 – James Parkinson, an English surgeon and pharmacist classifies types of tremor.
He studies 6 people with a condition of rigidity, shaking, slow movement
and problems walking that he mistakenly thinks are due to lesions in the cervical spine. He names the condition shaking palsy. It was later renamed Parkinson’s disease. It is not dystonia. Parkinson’s disease involves the substantia nigra area of the midbrain, is linked to lack of dopamine in that area.
1840-s – French internist Armand Trousseau coins the expression ‘forme fruste’
to identify a partial or atypical presentation of a disease, as contrasted
with form pleine, the disease full blown. The expression forme fruste
is later used to refer to some ways that dystonia presents itself in
some patients, especially wondering if one type is just a lesser version of
1853 – Romberg reports of a pianist with problems with using the thumb only
when playing piano .Romberg noticed dystonia in some musicians who did repetitive movements with their hand.. Some observers looked at these conditions and claimed they were occupational neuroses.
1860s- Ludwig Traube (1818-1876) notices a form of dystonia affecting
the vocal cords that he names ‘nervous hoarseness”.
1864- Samuel Solly names writer’s cramp scrivener’ s palsy
1870- Jean-Martin Charcot classified movement disorders with a clear evidence of
physical damage and others with a function evidence in
how the person moved but with no visible damage – an ‘organic
cause or a functional type of disorder
1871 – The condition was called athetosis- no fixed posture
1893- Sir William Gowers describes dystonic postures in hands and feet and calls them tetanoid chorea. He draws pictures of a man with spasmodic torticollis
He describes conditions of contractions of the neck and jaw. He notes that people
from some professions with often -repeated muscular action sometimes
develop the condition and he mentions seamstresses, smiths, harpists,
watchmakers, knitters, engravers, masons. Gowers studies writers’ cramp
in particular noticing that the disability in writing does not also cause
disability in shaving, playing the piano or even in writing shorthand
with its longer fluid strokes.
1897 – Barraquer Roviralta describes a condition we now recognize
as generalized dystonia, calling it athetosis
1900- French neurologist Henry Meige studies a condition in ten patients with jaw
oddities and eyelid closure. Later this is named the Meige syndrome
though it gets differentiated into the two separate dystonias. Meige at first
believed patients lacked ‘psychical equilibrium’, and suffered from melancholic temperament and emotional stress but in 1910 found evidence that there was an actual change in the activity of the midbrain especially in the basal ganglia.
1902 – Some people thought that it was just an invented disorder related
to hysteria and call these ‘hysterical spasms’
1908 – Schwalbe notes symptoms of cramps, tics and
rapid movements in the Lewin family of Jewish
1911 – Herman Oppenheim studies children with abnormal postures and
identifies some body positions as monkey or dromedary. He thinks at first it is a disorder of the muscles themselves and calls it dystonia musculorum deformans. He studies spasms, tremor and sustained posturing.
1911 – Flatau and Sterling note in some Jewish patients of high intelligence there is a repetitive pattern of jerky movements and progressive torsion spasm
1922 – Two German physicians, Drs. Hallervorden and Spatz study a serious
inherited degenerative disease that can involve muscle rigidity but
that is not itself dystonia. It has recently been linked to the PAK2 gene.
The disease for a time was named Hallervorden-Spatz disease. It seems linked
to increased iron deposits in the brain.
1929- Wimmer says dystonia is not a specific disease but a syndrome
1929- An epidemic of encephalitis occurred in 1915-1925, and was later identified by Dr. Von Economo. There was a rise in incidence of facial, neck and hand dystonia as post encephalitic neurologic complications. Meige had the idea that these conditions are all related and that they may involve the basal ganglia of the brain.
1944 – A motion picture about dystonia musculorum deformans is made by
Godhart and Balser at New York Montefiore Hospital
1944 Ernst Herz (1900- 1965) describes 15 patients with dystonia. He takes a film of
their movements and studies the movement frame by frame, looking at
sustained muscular contractions and a flow of abnormal movements.
He suspects it is an organic disease and not psychologically based. He
reviews 100 other such cases in medical literature.
1950s -A new drug for severe depression or psychosis is developed and others follow
with the same basic chemistry. However these first generation antipsychotics
are found to have significant risk of side effects such as tremor anxiety
and distress, weight gain, high blood sugar, rigidity and muscle stiffness. Some
patients develop slower movement and muscle weakness and some develop
restlessness and inability to sit still. The drugs are recognized as often leading
to dystonia and to a later appearing tardive dystonia or tardive dyskinesia that
are not immediately recognized until the drug has been taken for a while.
1964 – A motion picture entitled ‘Motor speech disorders” (dysarthrias) is made by the Mayo Clinic
1969 – A motion picture “Gait and Musculoskeletal disorders” is made
by Wayne State University
1970- There is more attention given to an inherited form
of dystonia, though there seem to be two different
forms, one in Jewish families and one in non Jewish families
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.
1970s – There have been 7 types of proteins identified in the clostridium botulinum bacteria and named A – G . It is found that A, B,E and F can create a medical condition called botulism. It is also found that in small doses toxin can be injected in muscles that are tight or in spasm to relax them.
Only type A in marketed as a drug at that time.
1970-s Dr. Masaya Segawa of Japan discovers a type of dystonia
which is unlike cerebral palsy, gets worse over the course
of a day and usually starts in childhood with problems
walking. It seems to run in families. It is linked to genetic features of chromosome 14 and of the GCH-1 gene. The condition gets named Segawa
syndrome and it is responsive to dopamine. (Dopa-reponsive
1979- A video recording about dystonia-athetosis is made by the University of Oklahoma
1980- Only 200 academic studies have been published about dystonia
1980- There is not yet a research field called ‘movement disorders’
1984 – The scientific board of Dystonia Medical Research Foundation redefines dystonia
as a “syndrome of sustained muscle contractions, frequently causing
twisting and repetitive movements or abnormal postures”
The committee sets up a classification system for types of dystonia
based on age at onset, body parts affected and likely cause
1985 – Researchers develop the Burke-Fahn -Marsden Rating scale FMDRS
to categorize dystonia conditions It looks at movement in 9 body
regions and rates their severity.
1986 – The Gemelli Hospital in Rome establishes a Movement Disorders Clinic
that over the next 15 years studies 4581 patients and sets up a registry
for those with dystonia and follows many of them for 15 years.
1989 – Researchers sequence a DYT1 gene and find a protein named torsin A
that seems involved in dystonia and that can be tested prenatally.
1989 – Some research shows with dystonia there is abnormal 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.
1991 – In North America over 98% of physicians have not heard
1991- Estimates are that dystonia is six times more prevalent than
Huntington’s Disease, ALS or muscular dystrophy.
However estimates of incidence vary widely
from 11 per million people to 248 per million.
1992 – Second International Congress of Movement Disorders- Munich Germany
1993 – The gene for dopa-responsive dystonia is mapped to chromosome
14 and the next year the actual gene involved is identified.
1996 – studies of dystonia at the time indicate
-cervical dystonia is 8.9 per hundred thousand.
-the peak age for cervical dystonia is 40-48years
-cervical dystonia is more common in women than men by 1.7 to 1
1996 – 3rd International Dystonia Symposium changes the official categories
of dystonia to include newly discovered genetic types.
1996- Eugene Smith writes” Dystonia; the disease that distorts” outlining the experiences of 35 American and Canadians with dystonia. The book looks at symptoms, treatments and factors affecting quality of life. Smith is a retired English professor at the University of Washington who at time of writing had had dystonia for over 25 years.
1997 -Drs. Laurie Ozelius, Xandra Breakefield and Susan Bressman discover the DYT1 gene, implicated in patients with early onset generalized dystonia. The DYT1 (TORIA) gene was identified as well as a 3-base-pair deletion associated with most cases of one type dystonia.
1997- Two more scales are developed to rate the movement ability of people
with dystonia. The Unified Dystonia Rating Scale and the Global Dystonia
Rating Scale. The Unified Dystonia Rating Scale rates movement in 14 different body regions and looks at not just how severe the problem is but how long the problem lasts. The Global Dystonia Rating Scale also looks at movement for 14 body parts rating severity from 0 to 10. It looks at ten body areas as broad categories including eyes, upper face, lower face, jaw, tongue, larynx, neck, shoulders arms, elbows, hands, pelvis, legs, feet and trunk
1997- Researchers find 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 is named the GAG deletion
and it seems to result in loss of glutamic acid that is normally
found in the torsinA protein. This seems to interrupt
how the neurons can communicate with each other for movement
and muscle control.
1998- Dystonia plus syndromes ae identified, as a rare separate category
including dopa-responsive dystonia, paroxysmal dystonia, X-linked
dystonia -parkinsonism, and myoclonus-dystonia. They are
not primary dystonia.that often seems inherited
1999- Human Genome Initiative – worldwide structural analysis of human DNA
is done to locate and sequence 100,000 human genes including ones that
may be linked to dystonia
2006 – Dr. Laurie Ozelius and others identify the THAP1 gene implicated in one rare form of dystonia.
2007- Genes have been found on DYT gene at 15 points linked to various
forms of dystonia
2007 – Research finds in resting state MRIs that blood flow and blood oxygen levels change in some areas of the brain for people with dystonia. Studies are done of the fundamental network links between parts of the body and how those seem altered with dystonia
2010 – Research on monkeys examines which areas of the brain are involved in dystonia and finds physical evidence of the condition at several locations
2013- Dr. Alberto Albanese publishes a paper redefining dystonia, classifying it using clinical features and causes. These becomes a new international standard
2013 – Dr. Laurie Ozelius finds gene abnormalities linked to dystonia on the DYT25 gene and affecting the way it codes for a GNAlL protein.
2014 – Research during PET scans shows the efficacy of some drug treatments for dystonia. Studies show that when a patient taps the fingers, dopamine is released. Brain scans during that motion trace how dystonia involves brain neurotransmitters.
2015- Dr. Richard Dewey Jr of University of Texas, Southwestern creates a portable set of sensors, APDM Mobility Lab. The six sensors, placed on the limbs, chest and l ower spine track gait, stride, balance, rotation and efficiency of movement in the torso and upper and lower limbs
2016 – Three medical doctors write “Living well with dystonia: a patient
guide:. Drs. Daniel Truong, Mayank Pathak and Karen Frei who
give a medical introduction to the causes, genetics, types of dystonia
and treatments including a survey of ways to cope and rehabilitation
2016 – Dr. Cynthia Comelia studies neck dystonia and quantifies its severity. Scales are developed to measure twist and motion while other scales look at nonmotor effects such as quality of life.
2017- Research studies that found no abnormality in brain function for hand or face dystonia when examined more closely did find special targeted areas of the putamen that had changed. The dystonia was seen to make specific small area brain changes matching precisely what part of the body was affected by the dystonia
2018 – Dr. Simonyan and others find large scale network changes in the brains of people with dystonia and are able to find subtle differences between which network changes happen for different types of dystonia
2018 – Dr. Ludlow and others examine vocal cord dystonia, measure its severity and set down clearer universal guidelines for how to recognize and classify it
2020 Sept -Dr. Kristina Simonyan of Harvard Medical School and Dr. Davide Valeriani have developed an MRI diagnostic tool that can detect dystonia. This is the first known technology of its kind to detect the condition on MRI. The AI based deep learning platform compared scans of 392 people with dystonia and 220 healthy individuals and diagnosed dystonia with 98.8% accuracy. Researchers have identified a new microstructural neural network biological marker 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. Change of labels over time
The names for dystonia have changed over time. Many conditions have two names and there are also many ways to categorize dystonias – by age of onset, location, likely cause, likely trigger. Patients have reported some confusion about labels they have been given.
1804- Scrivener’s palsy
1830 – writer’s cramp
1880s – craft palsy, occupational neurosis, occupational spasms, professional impotence – in shoemakers, tailors and telegraphists
1888- tetanoid chorea
1896- wry neck
1897 – athetosis
tonic cramps \
progressive torsion spasm
1911- dystonia muscularum deformans or dystonia (later rejected
because it is not due to muscle abnormalities)
1911- dysbasia lordotica progressiva
1911 – progressive torsion spasm
1912- hepatolenticulkar degneration
1912- tic like spasms
1912- clonic (sustained jerking)
1920- dystonia lenticularis
1926- myclonic dystonia
1970 – torsion dystonia (though torsion means twisting and some
have no twisting so this was changed)
1991- spasmodic torticollis
1990s- dystonias are classified by area affected
eye, hand, leg
-each category has a Latin name as well as a more common
2004 – earlier terms become differentiated
2007- each dystonia is classified in several categories
2015- the types of dystonia linked to the genes are given names based
on the part of the gene affected -eg. DYT1, DYT2 etc- DYT25
according to the Human Genome Organization
2019- flaws are found in the DYT genetic label system because other genes
also are involved in some dystonias eg GCH, TH, SPR so
an amended labelling is proposed with DYT prefixes for
pure dystonia but also with DYT/PARK for Parkinson related
genes, TREM for tremor, MYOC for myoclonus
D. Current categories
Many types of dystonia are now recognized ( some researcher say over a hundred) .This is a summary of ways to classify dystonia, based on material available online and in public access studies, It seems that some terms used vary between researchers.
a. based on date of onset
-tardive- came only slowly usually after drug treatment
b. based on location affected
brachial – arm
cervical, col – neck
cranial – head
cranio-cervical- head and neck
cranio-facial- head and face
crural – leg, thigh
embouchure – mouth pursing
hemidystonia- upper and lower limbs on same side of body
layrngeal – vocal cords
lower limb dystonia
Meige syndrome – eyes. mouth, neck
oral – mouth
oromandibular – mouth and jaw
peripheral- away from the centre, eg. hands, toes
upper limb dystonia
vegetovascular – changes in pupil related to mucous membrane drying
Within the categories there are sometimes more specific names of location. eg for the voice box
adductor spasmodic dysphonia– muscles pulled together, problems making voice
choppy and hard to hear
abductor spasmodic dysphonia- muscles are pulled apart and the voice has a
whispery, breathy quality
c. based on how much of the body is affected
focal – affects one area
functional- affectitng face, neck, shoulder, limbs or trunk
multifocal- two or more unrelated pats of body
segmental – two or more adjoining parts of body
hemidystonia – upper and lower limbs on same side of the body
generalized – affects much of the body
d. based on whether there is a genetic link
-inherited/ familial/ genetic/ hereditary
-primary- having a genetic link
-secondary ( acquired) -not having a genetic link and likely caused by some outside factor
such as toxin, infection, medication, drug reaction, environmental factor, or stroke, injury to spinal cord, injury to head, peripheral injury or brain damage at birth
e. based on treatments
non dopa responsive
f. based on likely causes
acquired- caused by disease, infection, injury, known external cause
fixed- immobile postures that do not return to the neutral position at rest
genetic/ familial/ hereditary
idiopathic – from unknown cause
not action induced
primary- appears suddenly with no known cause
pseudodystonia- due to nerve injury, stiffness with no sensory tricks
secondary – caused by disease, infection, injury or other known cause
g. based on severity
progressive – increase in intensity or changes location
sporadic (variant) – occasional
forme fruste – partial
forme pleine- full version
h. based on positions or motions related
antere – forward
extension- stretching out the muscle
flexion- bending the muscle, tightening it
lateral left or right – tilting left or right, tilt to shoulder
myoclonus distonia- dystonia with lightning-like myoclonic jerks
rotational left or right- turning left or right
spasmodic – spasms, irregular bursts
( so combining words-
anterocollis- bending head forward
retrecollis- extending head backwards
torticollis- rotating head to turn one direction
lateralcollis- tilting head to one side)
( Some patients have several of these directional challenges at the same time so their label may have two parts. eg if they both tilt the head and turn it, or bend it down and turn it etc.
eg.right torticollis and left tilt)
i. based on when it happens
kinesigenic- it only happens once the person starts to move, not at rest
nonkinesigenic- it happens at rest also
paroxysmal- possibly triggered by sudden movement, coffee, fatigue, alcohol
j. based on hobby or career of patient
embouchure dystonia- of lips, face muscles, jaws and teeth to play a wind instrument
task specific dystonia
k. linked to other medical conditions
cerebral palsy sometimes has dystonia symptoms in addition.
Parkinson’s disease patients sometimes also have dystonia symptoms
paroxysmal dystonia- (contractions with abnormal repetitive movements)
X-linked dystonia parkinsonism
rapid onset dystonia-parkinsonis
E. Related medical tests
Patients report that often the first consultation with a family doctor may suggest that symptoms are due to fatigue or a muscle cramp . Advice is sometimes given to use a cream, painkiller or to rest. When that does not resolve the situation, other tests are often done:
-ultrasound of the affected area
-CAT scan of the brain
-SPECT scan -a single photon emission computed tomography imaging- to visualize dopamine transport in the brain (is used to diagnose Parkinson’s Disease)
The tests done are costly to patients, the medical system and insurers. When they come back negative, they were useful to rule out other explanations but one purpose of the surveys is to find commonalities in symptoms that might expedite the diagnosis and be a more efficient use of tests for all concerned.
Doctors have often used rating scales to measure movement Some of these include
Unified Parkinson’s Disease Rating scale from the 1980s – Dr. Goetz Tilley
The doctor asks questions in a clinical setting-
-walking balance, fre3zing gait, facial expression,
sleep problems, sleepiness, urinary and constipation problems, tremor,
fatigue, speech, drooling, dressing, hygiene, anxiety, depression, apathy, posture, rigidity, finger tapping, light-headedness
Stroke Recovery Calculator – from National Institutes of Health Stroke Scale- after ischemic stroke
THRIVE score for Stroke outcomes – prognosis after acute ischemic stroke
to quantify motion ability
Ashworth Scale AS for effects of antispasticity drugs
MAS scale -a movement scale to examine central nervous system problems
The recent discovery of an MRI proof of dystonia is groundbreaking. The recent discovery of genetic links to dystonia is helpful and blood tests for DNA profile are important tools. Many patients however report that the cost of such tests is prohibitive.
F. What seems useful to study further
what patients need from doctors
Clinical studies often focus on what the doctor can do to help. It is a logical focus because the patient goes to the doctor for help. However patients report they also seek something else from doctors. They want to understand the condition even if the doctor can’t fix it. They want to know what is likely the next stage in the usual course of this condition..
The vulnerability of their desperation could be relieved if more information was available to them about this condition. The surveys enable patients help researchers in this information collection.
G. Comments from clinical studies and researchers
about tests and diagnosis
– Relatively little is known about basal ganglia neuronal activity in 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
– What goes wrong in the basal ganglia is unknown
– 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
– A quantification tool for objective measurement of the extent of musicians’ cramps having a high precision has not been available
-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
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
H Comments from patient experience
experiences consulting a doctor
Doctors should have a left tilt and right tilt examining room so we can look at them
I call my doctor my nero
I called in the big guns, the specialists
My doctor is marvelous and does not give up on me
My family doctor had seen another patient with dystonia but not for ten years
The trip to see my doctor usually takes ten hours. It’s hard on my body so video chats are great
Providing literature does not necessarily solve our problem
We patients have learned to suppress an eye roll when the doctor never heard of this condition
I am getting used to talking to doctors and thinking “I notice you are not believing me”
That doctor treats me like an unreliable witness in my own medical condition
She was one of those trained medical professionals who had never heard of spasmodic dysphonia
symptoms misunderstood, misdiagnosis
At first they treated me like I was an addict
Because my speech was slurred, one doctor accused me of being drunk
I got so tired of being told it is all in my head and playing doctor ping pong
I was at first told I had young onset Parkinson’s
Years ago I was treated for it by being put in a psych ward, given a truth drug
I’ve become my own advocate. I just keep fighting till someone listens
I was told to rub cream on my jaw
I’m 35 but I took my mum with me to the doctor so I’d be taken seriously
The misdiagnosis was that it was a pulled muscle
We patients learned to suppress an eye roll when the doctor never heard of the condition
An MRI showed no signs of bone damage or nerve irritation
Finally a neurological test found abnormalities
I had an MRI scan but no problem was detected
It was hard for him to get a throat scope down my nose because my head pulled back
MRI results said all was good
My MRI and nerve conduction studies came back clear
No tests they did on me found anything wrong
Since the tests were negative, doctors told me I was fine
The blood tests confirmed my dystonia is genetic.
The MRI and CAT scan showed nothing unusual
They did an EMG and it was normal
delay to get diagnosis
I was relieved when the spasms were so bad that had to go to the doctor to get an answer
I did not get a diagnosis for 14 years
I saw so many doctors one called me a pill seeker
I spent years going in and out of doctor’s offices
I was lucky the immediate diagnosis was dystonia
I was tired of explaining my symptoms
It didn’t take long to get a diagnosis but it took 3 years to get treatment
This was doctor number I had consulted
Within a few seconds of feeling my neck muscles, the doctor knew it was dystonia
It feels like I’m always waiting for appointments or test results. I have to park in Patient Parking but I would be more suited to Impatient Parking
getting diagnosis – first reaction
I was elated that I now had proof – a video recording of my tremors
i was happy it was not a stroke as a colleague at work thought
I was relieved it was real and not just my imagination
I was glad it is not life-threatening
I was happy just to know I am not going crazy
I was relieved to finally get a diagnosis
It was such a relief to now have a name for this
The doctor reassured us it was not a tumor and it was not deadly
To be frank, hearing it was dystonia was a relief
I cried tears of relief when she said it was not life threatening
When I was told it was dystonia I was so happy I cried. I was not crazy!
patient effort to understand diagnosis
After reading about dystonia, which I’d never heard of, now my symptoms made sense
I asked others on social media about dystonia
I did some research on my own
I googled dystonia the day after diagnosis
I started researching the disorder
I was given a pamphlet and told of a support group. I watched Youtube videos about it
I’d never heard of it
It is hard to live in limbo about diagnosis
It was mind blowing how little information any of us had about dystonia
I’ve spent many hours searching the Internet for more information
Mixing Dr. Google with fear is a lethal combination
When I tell people I have dystonia, some think it is about hearing, a bone disease or fear of distance
We did research on the computer about what was going on
We started looking it up on the internet and I had an anxiety attack
I. How to ask
Source of question ideas:
clinical studies, patient reports
J. Question categories
access to doctor – distance, time to wait
clinical exam in office
telemedicine, web, phone
doctor patient relationship
expertise of doctor re dystonia
tests – lab test
tests- MRI, X ray, machines
K. Questions asked -survey number, question number
surveys 14, 35
14 39 doc,tests 26 69 88 7
35 6 doc.tests 10 14 83 2
max no. respondents 39
total questions 83
likely type of dystonia all
percent of all respondents doing survey 39 of 508 or 7.7 %
(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. access to doctor – distance, wait
-Were you hesitant at first to seek medical care when you had dystonia symptoms?
58.97% No. I went to a doctor pretty quickly
25.64% Yes. First I tried making little adjustments and waited to see if it
12.82% I was so young it was not my decision about what care to sek
5.13% not applicable
2.56% Yes. I was afraid to deal with it in case it was serious about my health
2.56% Yes. I was afraid to deal with it because of what it might mean
for my career ( 14-1)
100.00% It takes under 2 hours to travel to my family doctor’s office
33.33% It takes under 2 hours to travel to my specialist’s office
33.33% It takes 2-5 hours to travel to my specialist’s office
33.33% I have to travel another city to see some of my specialists for dystonia
0% It takes 2-5 hours to travel to my family doctor’s office
0% It takes over 5 hours to travel to my family doctor’s office
0% It takes over 5 hours to travel to my specialist’s office
-How long do you have to wait to get an appointment with a family doctor?
66.67% within one week
16.67% over 2 weeks
16.67% under 2 days
0% 1-2 weeks (35-2)
-How long do you have to wait to get an appointment with a specialist about dystonia?
50.00% 1-3 months
33.33% under 1 month
16.67% 3-6 months
0% over 6 months
2, clinical exam in office
-Did the doctor check your ability to flex your hands, wrists, move your fingers?
11.11% not applicable (14-13)
-Did the doctor check your ability to handwrite?
8.11% not applicable
-Did the doctor check your ability to move your neck, hands, arms, legs and to
push against objects?
55.56% Yes the doctor did all of those tests
25.00% Yes the doctor did some of those tests
5.56% not applicable (14-10)
-Did the doctor check your eyes?
11.11% not applicable (14-12)
-Did the doctor check your ability to pour a liquid and hold a cup?
10.81% not applicable (14-14)
-These questions ask about what you have done to help a doctor understand your symptoms.
66.67% I bring a written list of my concerns
33.33% I feel shy about bringing actual evidence in case I seem a worrier
33.33% I bring I video of my movement and gait
16.67% Not applicable
16.67% My doctor encouraged me to bring a photo ,video or recording
16.67% I bring photos of how dystonia affects my music or sport
0% I bring in photos of my body positions
0% I bring in an audio recording of my voice
3. telemedicine, web, phone
-These questions ask about phone or video consultations with doctors- telemedicine.
66.67% I need in person visits to get injections or other treatment
50.00% I need in person visits to have a physical exam
50.00% I have never had a video consultation with a doctor
50.00% I like both telemedicine and office visits
33.33% Telemedicine is good for follow up after treatment
33.33% I prefer telemedicine to office visits because it saves time
33.33% I prefer telemedicine to office visits because it costs me less money
33.33% I prefer in person visits to share news about my condition
33.33% I have never had an online written consultation with a doctor
16.67% not applicable
16.67% I feel more secure and private with in person visits
16.67% I do not like how I look on camera and prefer in person visits
0% I have never had a phone consultation with a doctor
0% I find phone visits difficult because of my voice problems
0% I do not have access to a computer for video or online consultation
4. missing appointments
-Have you missed an appointment about dystonia?
70.27% I have never missed an appointment
37.84% I try very hard not to miss any appointments
32.43% During covid, my appointment was postponed or cancelled
5.41% I missed an appointment due to hopelessness the appointment would help
5.41% I missed an appointment because of pain or discomfort that day
2.70% not applicable
0% I missed an appointment because of transportation or weather problems
0% I missed an appointment because nobody was available to help me get there
5. doctor patient relationship
-How do you face medical appointments?
62.50% I plan for them but am able to not worry about them
37.50% I tend to worry about them, sometimes for weeks ahead
-What is your experience of a doctor’s appointment?
48.65% I am objective don’t worry what the doctor thinks of me
43.24% I prepare a list of questions to ask
24.32% After an appointment I sometimes forget parts of what was said
18.92% I worry what the doctor thinks of me
16.22% I want so much to be well that I may under report some concerns
10.81% If the doctor seems tired or busy, I decide not to ask some questions
10.81% I take a patient advocate with me to help me at the appointment
8.11% I have been discouraged from bringing a ‘shopping list’ of questions
8.11% not applicable
-These questions ask about the doctor patient relationship.
83.33% My doctor treats me with respect. We’re a team
83.33% My doctor listens well, spends time, does not rush
83.33% I have found at least one good doctor for my dystonia
50.00% My doctor gives me courage and optimism
33.33% I often seek word-of-mouth advice to suggest a good doctor
16.67% not applicable
0% I am not sure where to look to find a good doctor
6. expertise of doctor re dystonia
-Was your family doctor familiar with this condition?
47.37% My current family doctor still admits not being very familiar
47.37% My first encounters about it were with doctors who had never
heard of dystonia
39.47% I was referred quite quickly to a specialist
28.95% My doctor had other theories and did not at first consider dystonia
26.32% It took over a year to get a referral to a specialist
23.68% My doctor discounted my symptoms as only psychological
15.79% My doctor examined me thoroughly and did tests to consider
2.63% not applicable (14-2)
-Have you gone from doctor to doctor trying to find out what was wrong?
37.84% No (14-3)
-doctor patient relationship
100.00% I consulted one doctor who knew nothing about dystonia
83.33% I have changed doctors at least once to find help for my dystonia
66.67% I consulted one doctor who did not seem to believe me
50.00% If a doctor does not know how to help me or does not want
to help me, I don’t want their help
33.33% A doctor has told me there is nothing that can be done for me
16.67% A doctor prescribed me pills that are addictive and then
treated me like I am a drug addict
7. tests- lab tests
-Have you been tested for antibodies to botulinum toxin?
2.86% Yes (14-23)
-Have you been tested genetically for the DYTI (TORIA) gene or any other gene linked to dystonia?
83.33% No I have not had genetic testing
11.11% Yes I have had genetic testing about dystonia
2.78% Yes I have had genetic testing but not about the dystonia
2.78% not applicable
8. tests – MRI , X ray , other
-Did you have an X ray of the area where you have dystonia?
5.56% not applicable (14-15)
-Is it hard to stay still for an X ray or other scan?
40.54% No, staying still is not a problem for me
32.43% Yes sometimes
27.03% Yes always
-Have you had an MRI of the brain?
32.43% No (14-17)
-If you had an MRI how was the experience for you?
50.00% The staff was kind and reassuring
38.89% I was surprised at how noisy it was
30.56% not applicable
30.56% I had to force myself to relax
13.89% I was comforted by the soft cushions around me
-These questions ask about your experience of getting an MRI.
60.00% The MRI is noisy
60.00% In the MRI I close my eyes to stay calm
40.00% The MRI is usually not a bad experience at all really
20.00% In the MRI the pads around me make me feel comforted
20.00% In the MRI the pads around me help reduce the tremors
20.00% I was given medication to reduce my tremors before the MRI
20.00% I had not had an MRI
20.00% Before the procedure I am often quite nervous
20.00% not applicable
0% I was given medication to relax me or sedation, before the MRI
(low number of respondents to this question)
-Have you had a CAT scan?
-Have you had an EEG – electroencephalography to record brain activity?\
-Have you had an EMG – electromyography to detect electrical potential in the muscles?
44.44% No (14-21)
-Have you had a positron-emission tomography (PET) scan of the brain areas involved?
-Have you had a spinal tap, for instance to see what your dopamine level is?
-tests you have had
33.33% not applicable
33.33% I had tests to see if my nerves are pinched
33.33% I had surface electromyography to measure muscle tension
16.67% not sure
0% I had thermography to help find hot spots of where to inject
-How long did it take from first having symptoms and seeing a doctor to getting a diagnosis of dystonia?
30.56% under 6 months
19.44% 1-2 years
16.67% 2-5 years
11.11% over 10 years
11.11% 6-12 months
11.11% 5-10 years
-How long was the delay between first having symptoms and getting the diagnosis of dystonia?
35.71% Under one year
3.57% 6-10 years
28.57% 2-3 years
17.86% 4-5 years
14.29% over 10 years
-In what area did you live when first diagnosed?
71.43% Canada, United States
10.71% western Europe
10.71% Australia, New Zealand
3.57% southeast Asia
3.57% eastern Europe
0% South America
0% Latin America
0% India, Pakistan
0% Middle East
10. name of condition
-Have you been confused by the various names for your type of dystonia?
40.00% The dystonia I have has more than one official label
37.14% not applicable
22.86% I have developed a new type of dystonia along with the first one
17.14% The official name for my type of dystonia has changed
11.43% Doctors told me several possibilities for the type of dystonia I have
11.43% Doctors have changed their theory of what type of dystonia I have
positive or negative experience
These surveys reported quite high levels of satisfaction with medical care once dystonia had been correctly identified.
83.33% report they have found at least one good doctor for their dystonia, 83.33% say the doctor listens well and does not seem rushed and 83.33% say the doctor treats them with respect.
50.00% said the doctor brings them courage and optimism
39.37% said they were referred quite quickly to a specialist
Frustration reported was mainly about delay to get the diagnosis and lack of knowledge of dystonia among first doctors consulted.
100.00% reported that they had consulted one doctor who knew nothing about dystonia
83.33% reported they had changed doctors at least once to find help for the dystonia
66.67% said they had consulted one doctor who did not seem to believe them
47.37% reported that their current family doctor still admits not being very familiar
33.33% said a doctor had told them there was nothing that could be done for them
23.68% reported that a doctor had discounted their symptoms as only psychological
The surveys did not ask date of diagnosis. In earlier decades it was more difficult to get an accurate diagnosis of dystonia than recently. However even recent social media posts indicate that patients continue to encounter doctors who do not know much about dystonia and a few who do not believe the patient’s reports of symptoms.
access to doctors
100.00% reported that it takes under 2 hours to travel to the family doctor’s office
Access to specialists was lower with 33.33% saying it takes under 2 hours to travel there, 33.33% saying it takes -2 5 hours and 33.33% saying they have to travel to another city to see some specialists.
Getting an appointment with the family doctor was possible within 2 days for 16.67%, within one week for 66.67% . For 16.67% however it takes over 2 weeks to wait for an appointment with a family doctor.
The wait to see a specialist is longer, being under a month for 33.33%, 1-3 months for 50.00% and 3-6 months for 16.67%
The surveys revealed that the covid pandemic resulted in cancellation or postponement of
appointments for 32.43% of patients.
Respondents differed about telemedicine. The practise seems more common with only 50.00% saying they had never had a video consultation with a doctor. However preferences were mixed.
telemedicine was preferred
33.33% said telemedicine costs less money and saves time
33.33% reported that it is a good way to check in for follow ups after treatment
in person visits were preferred
50.00% reported they need in person visits for a physical exam,
66.67% reported they need in person visits to get injections or other treatment
33.33% prefer in person visits to share news of their condition
16.67% feel more secure and private with in person visits
16.67% do not like how they look on camera and prefer in person visits
50..00% reported they liked both telemedicine and office visits
Though 62.50% say they plan for appointments but do not worry about them, 37.50% report they tend to worry about the appointment
43.24%- 66.67% say they prepare a list of questions to ask but 8.11% say they have been discouraged from bringing such a list
Respondents vary in their likelihood of telling their doctor full details .
48.65% report they are objective about their symptoms and do not worry
what the doctor thinks of them
33.33% bring a video of their movement and gait
18.92% say they worry what the doctor thinks of them
16.67% bring photos or video of their musical or sports experience with dystonia
16.22% say they want so much to be well that they may under report some concerns
10.81% say that if they sense the doctor is tired or busy they decide not to ask some
The experience patients report of what medical tests they have had is likely related to what symptoms they had and these surveys did not correlate type with tests. However the surveys did find a range of experiences with such tests.
67.57% had had an MRI of the brain
55.56% had had an EMG
45.71% had had a CAT scan
38.89% had had an X-ray of the area of dystonia
33.33% had had surface electromyography to measure muscle tension
33.33% had had tests to see if they had pinched nerves
31.43% had had an EEG
11.11% had had genetic testing about dystonia
5.56% had had a PET scan
5.56% had had a spinal tap
2.86% had been tested for presence of antibodies to botulinum toxin
time to diagnosis
The questions about time elapsed before a diagnosis of dystonia were asked in two separate surveys. Unfortunately the intervals listed as options were not the same for the two surveys. However the results overall indicate that it was rare to get a correct diagnosis quickly.
There seem to be two intervals of waiting, one the delay between having symptoms and seeing a doctor and two, the delay between seeing a doctor and getting the correct diagnosis.
An accurate estimate of the time before diagnosis would have to clarify the question and in some cases patients may not be sure of the first interval and more sure of the second.
The medical profession is not responsible for the first delay but raising of public awareness and reduction of stigma of the condition may help reduce reluctance to seek medical help. The inclusion of dystonia in the curriculum of training of doctors may help reduce the second delay.
Overall the surveys found that
30.56% got the diagnosis within 6 months
35.71% -41.67% got the diagnosis within one year
77.78%- 82.14% got the diagnosis within five years
11.11%-14.29% did not get the diagnosis for over 10 years