30. Medical consultations and tests

Medical consultations and tests

A. Context

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

            another type.

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

            of dystonia.

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                 \

torsion neurosis

progressive torsion spasm

dystonia lenticularis

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          

            English name

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

-early onset


-young onset

-adolescent onset

-adult onset

-late onset

-rapid onset

-tardive- came only slowly usually after drug treatment

b. based on location affected

axial- trunk

blepharos- eyelid

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

lingual- tongue

mandibular -jaw
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

alcohol suppressed

dopa responsive

non dopa responsive

f. based on likely causes

acquired- caused by disease, infection, injury, known external cause

action induced

drug induced

exercise induced

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

trauma induced

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

retre- backward

rotational left or right-  turning left or right

spasmodic – spasms, irregular bursts

torsion- twisting

( 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

alcohol suppressed

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

musicians’ dystonia

pianists’ cramp

runners’ dystonia

task specific dystonia

typists’ cramp

writers’ dystonia

k. linked to other medical conditions

cerebral palsy sometimes has dystonia symptoms in addition.
Parkinson’s disease patients sometimes also have dystonia symptoms

dystonia plus                

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:

-blood tests

-X rays

-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

L Results

doctor, tests

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 %

M. 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. 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

                        went away

            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)

-medical appointments

            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?

            69.44% Yes

            19.44% No

            11.11% not applicable (14-13)

-Did the doctor check your ability to handwrite?

            70.27% No

            21.62% Yes

            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

            13.89% No

            5.56% not applicable (14-10)

-Did the doctor check your eyes?

            47.22% Yes

            41.67% No

            11.11% not applicable (14-12)

-Did the doctor check your ability to pour a liquid and hold a cup?

            78.38% No

            10.81% Yes

            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

            ( 35-4)

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

             ( 14-5)

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

                        with dystonia

            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

                        possible diagnoses

            2.63% not applicable (14-2)

-Have you gone from doctor to doctor trying to find out what was wrong?

            62.16% Yes

            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?

            97.14% No

            2.86% Yes

            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?

            55.56% No

            38.89% Yes

            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?

            67.57% Yes

            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?

            54.29% No

            45.71% Yes

-Have you had an EEG – electroencephalography to record brain activity?\

            68.57% No

            31.43% Yes

-Have you had an EMG – electromyography to detect electrical potential in the muscles?

            55.56% Yes

            44.44% No (14-21)

-Have you had a positron-emission tomography (PET) scan of the brain areas involved?

            94.44% No

            5.56% Yes


-Have you had a spinal tap, for instance to see what your dopamine level is?

            94.44% No

            5.56% Yes


-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

            0%  Africa


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



N. Analysis

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

            with dystonia

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

doctor-patient relationship

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