There is no technical designation of dystonia of the trunk. However for some dystonia affects the back, legs, arms, and makes it difficult to maintain an erect upright position. This survey category was considered a practical one for those who fill out the surveys by body part.
Typically those with this dystonia are given the label generalized dystonia though the muscle groups affected may vary. For some the torso and limbs are affected while for others the neck and face may also be involved. Typically this dystonia does not affect the heart, lungs or digestive tract.
It is common for this dystonia to begin in childhood or the teen years and it often starts in the feet or legs and progresses but at a rate not easy to predict.
Those who have the diagnosis often have had several misdiagnoses along the way, especially those who were first treated decades ago. Many who are seniors today were in childhood misdiagnosed as seeking attention, being mentally ill, having cerebral palsy, tremor, Parkinson’s disease or orthopedic conditions.
Some patients developed other medical conditions in later years though it is not clear if there is a consistent link to those and dystonia.
Very few people have written autobiographies about their dystonia though in recent years with the advent of the Internet and less public stigma, there is more openness to discuss it than there was in earlier times. Some of the earliest biographies were by people who had generalized dystonia. Their experiences chronicle a very long journey with many medical tests, consultations, medications, diagnoses, sometimes surgeries and often great frustration and courage.
1300- Dante Alighieri writes an epic poem, The Divine Comedy, outlining a tour of Purgatoria and Paradiso. In scenes of the Inferno, some of the tortuous figures depicted suggest dystonia
1912 – Fraenkel looks at rapid twisting sustained movement and twisted posture in the pelvis
1917 – Egon Schiele (1890- 1918 ) was a Paris photographer who took some photos of people with dystonia-like postures
1969-a motion picture “Gait and Musculoskeletal disorders” is made by Wayne State University
1973 Neurosurgeon I. S. Cooper writes “The Victim is Always the Same” describing his work with children with dystonia musculorum.
2002 – Carmine L. Petrangelo writes ” Surviving Dystonia; the truth about this rare and misunderstood disease” He chronicles his experiences with dystonia musculorum deformans, generalized early onset dystonia from a young age.
2002 – Bette Levine writes “Learning, Coping, Living’ about her experiences with cervical dystonia and blepharospasm and generalized dystonia and her resilience.
2013 – Brenda Currey Lewis writes ” A Twisted Fate: my life with dystonia”
C. What seems useful to study further
1. first signs of the condition
This type of dystonia seems to start in the feet or legs. One might study why there. It maybe useful to study what aspect of the foot is first involved. It seems that it is often that the foot curls, or ‘inverts’, that the person is pigeon toed, drags a foot, or tends to not put the foot fully down and stands mostly on the side of the foot. The technical aspect of what is going on to create this position could be examined to determine what areas of the brain are sending or receiving messages normally and which ones are not.
It might be useful to study the pain the patient experiences, the pressure if any, and what their sensation is for heat, pressure and touch in affected areas. Finding patterns to first symptoms may enable earlier diagnosis.
2. progression of the condition
The order of body part involvement may be useful to study
-in order of distance from the body core – eg. toe. foot, lower leg. hip, trunk, fingers, hand, wrist, elbow, shoulder neck, face
-in order of adjacent brain area of motor function – homonculus – toe, ankle, knee, hip, trunk, shoulder, elbow, wrist , hand, fingers, eyes face
-in order of adjacent brain area of sensory function homonculus – lower extremities, neck, shoulder, then torso, arms, hand, face
It seems that the progression is not clearly any of those however. One might also study what parts of the body seem more resistant to dystonia.
3. the intensity of the condition, its most and least difficult periods and its remissions if any
Patients rarely report remissions but some do. Those instances may be useful to study though those in remission may be least likely to see a doctor. It may be useful to see what is going well and the dystonic pressure, pain or messaging is not happening. If the body has a natural ability to heal itself, this may hold clues to the nature of dystonia. Any medical condition that has honeymoon periods, or remission, such as diabetes can or cancer, presents similar windows to study the body’s successful response to a medical challenge.
4. the triggers to difficult episodes or flares
Some patients have ‘flares’ or extreme episodes of dystonia that present a medical crisis and end the patient up in emergency rooms. Often patients report that dystonia is so little known even by some medical professionals that when they present at emergency departments, staff is not always familiar with the condition.
5. genetic links
This type of dystonia seems to have high incidence of genetic links. Informally patients notice that many have a relative with dystonia but one with another neurological condition- such as multiple sclerosis, Parkinson’s disease, or tremor. In recent years genetic testing is more common and has revealed several dozen areas of gene involvement. The exact genes involved and what types of dystonia seem linked to them will be fruitful in understanding dystonia. However it also seems that in clinical studies genes do not predict dystonia accurately. Some with the dystonic gene do not show signs of dystonia. The reason some are able to not get it is a mystery but could be studied,
In addition, many patients with this type of dystonia do not have those genetic anomalies, at least not any that have been discovered to date
Patient surveys of family history may reveal patterns even when there have not been genetic tests. In some countries a person has to pay for genetic tests and the costs may be prohibitive. What might be useful to study is not just the incidence of dystonia but also the incidence of other neurological conditions, tremor, head nodding, head tilt, in relatives.
It may also be useful to study incidence of other medical conditions that have motor or brain involvement such as MS, cerebral palsy, Parkinson’s disease, autism, dementia because such links may suggest a genetic predisposition that might reveal some very useful commonalities between those conditions and dystonia. A separate examination of commonalities between dystonia and other medical conditions is made in a later chapter.
6.impact on career, income, life options
Patients report that all forms of dystonia have some impact on daily life – eating, personal care, mobility or speech. However those with generalized dystonia report dramatic impact on nearly all areas of life, and from very young. Patients report experiences that limited their schooling, career choice, job opportunity and even their income. Their opportunities for living independently, for travel, for marriage and having children are also often impacted. A survey of this may not give useful medical information about dystonia but it may be of vital importance to understand a patient’s options for coping, financial ability to seek medical treatment and their psychological journey.
7 involuntary movements, tics, tremors and pain
Patients with some forms of dystonia report no pain while those with other forms report intense pain. The experience of pain may itself shed light on how dystonia works and the pain experience of those with generalized dystonia may be particularly useful to study. Since they have it in several body parts, their experience of pain in each may be useful to understand what body parts tend to send pain messages more often and how that message is given.
Some patients with dystonia report that they are under an intense pressure to make their neck lean for instance, but that any movements they make are all planned as they try to cope with this pressure. When dystonia is labelled a disorder with involuntary movements, that does not seem to match their experience because they report that they do move oddly but the movements are conscious or seem very natural responses to pain. People with generalized dystonia however often report involuntary movements, where arms or legs shoot out, they flail around, they find they are inadvertently kicking something or making odd jerking motions that surprise even them. The difference between those two aspects of dystonia- the involuntary versus voluntary could be studied.
Some patients report that for them dystonia is a pressure to lock a muscle into one place, and say it is very difficult to move it – that a finger may stick up and be hard to bend, or may curl and be hard to uncurl, or the neck may tilt and be hard to right. However some people with dystonia report what seems more of a constant motion, not a lock down. They report a tremor, a head nodding ir spasms that are sometimes so intense that to calm them down to a nonshaking condition is the challenge. These two experiences could be studied in particular for those with generalized dystonia to see if there patterns.
8. other medical conditions that are also common in patients
Patients with generalized dystonia report that they sometimes also have other medical conditions alongside dystonia. It may be useful to study if there is a pattern to these other conditions. Some have mentionned anorexia, carpal tunnel syndrome, epilepsy, laughing attacks, disc problems, arthritis, deafness. Though most people with dystonia do not report unusual breathing or digestive problems, people with generalized dystonia sometimes do. Some have been diagnosed with paradoxical breathing where the chest contracts when inhaling and expands on exhaling.. Some have been diagnosed with gastroparesis, partial paralysis of the stomach.
9.psychological effects, self-esteem, public reception
Patients diagnosed young with generalized dystonia and now middle aged or seniors have lived through periods of significant change in the medical profession’s understanding of their condition. They have developed expertise in their own condition and also experienced the learning curve doctors have also had about it.
Some have had surgeries that did not succeed or succeeded only partly. They were often the first in their community to have such procedures done and many are among the first to have had very successful treatments.. Since the public is not well informed about dystonia, most patients with dystonia report some challenges to their own social comfort. Those with generalized dystonia have had all of those experiences, more dramatically and for many years.
D Comments from patient experience
As a baby I did not sit properly and was late learning to walk.
Eventually my body was completely contorting ankles, legs, arms and wrists
My spine curves and twists to one side
When my hip is straight, my knees and ankles try to straighten
The spasms started in her diaphragm and even in her sleep went on for hours
I now wear a back brace
I now have an electric wheelchair
He can still do computer gaming so he’s happy
E. How to ask
Source of question ideas:
patient histories, clinical studies
F. Question categories
G. Questions asked -survey number, question number
surveys 12B, 33
12B 14 trunk 11 54 85 5
33 2 trunk 6 8 81 1
max no. respondents 14
total questions 62
likely type of dystonia trunk, generalized
percent of all respondents doing survey 14 of 508 or 2.8%
challenges to do this survey – sitting, ability to use computer comfortably
(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)
-As you stand is your body mostly symmetrical?
57.14% No (12B – 1)
-Does your body bend so much that you have trouble standing?
61.54% No (12B-14)
-Does your dystonia change the position of your abdomen?
46.15% No (12B- 8)
-Does your pelvis protrude so it’s hard to stand straight?
76.92% No (12B – 9)
-Do you think your lower back is starting to curve?
46.15% No ( 12B- 15)
-Does your body rock back and forth as you sit?
92.31% No (12B – 24)
-When sitting do you brace yourself against the chair frame?
21.43% No ( 12B – 21)
-When sitting do you hang onto something to keep still?
64.29% No ( 12B- 22)
-Do your back muscles tighten as you stand up?
14.29% No (12B- 5)
-When standing do you shift your weight back and forth to stabilize yourself?
21.43% No (12B-6)
-Does your body bend so much that you have trouble walking at al?
64.29% No (12B – 27)
-When you walk does your head arch backwards?
76.92% No (12B-25)
-When you walk does your trunk bend forward at the hips while your neck extends?
64.29% No (12B – 26)
5. kneeling, bending, stooping
-Is it hard to kneel down?
46.15% No (12B- 34)
-Is it hard to bend forward or stoop?
30.77% No (12B – 33)
6. symptom progression
-Did the dystonia move from the legs, to arms, neck and then to face?
35.71% Yes, legs to arms
21.43% Yes, arms to neck
14.29% Yes, neck to face
50.00% No, it did not have that progression (12B – 46)
7. balance, tilt
-Does your body feel pulled forward?
66.67% No (12B-11)
-Does your body feel pulled backward?
61.54% No (12B – 10)
-Does your body feel pulled to one side?
28.57% No (12B – 12)
-Does your body feel pulled two ways at once? eg. backward and to one side?
53.85% No (12B – 13)
-Is your sense of balance different when you close your eyes?
35.71% No (12B- 3)
-Is your sense of balance when standing different when you turn your head to the left than when you turn your head to the right?
53.85% No (12B- 4)
8. pain, pressure, touch sensitivity
-Are you in pain when sitting?
57.14% Yes, nearly constantly
7.14% No (12B -41)
-Are you in pain when standing?
42.86% Yes nearly constantly
7.14% No (12B- 40)
-Are you in pain when walking?
64.29% Yes most of the time
14.29% Only sometimes
21.43% No ( 12B – 43)
-Are you in pain when lying down?
21.43% Yes, nearly constantly
28.57% Nearly never (12B – 42)
-Does it hurt to touch under your armpit?
21.43% It causes discomfort
78.57% It has no effect
0% It brings relief (12B-44)
-Does it hurt to touch along the side of your body?
23.08% Yes it causes discomfort
69.23% It has no effect
7.69% It gives some relief (12B-45)
-Does your back ache?
7.14% No (12B- 39)
-Is it hard to find a position free of pain, so you keep moving around to find one?
7.14% No (12B-30)
-Do you get pressure sores on your rear end?
85.71% No (12B -20)
-Were you examined to see if you have scoliosis?
14.29% No (12B-2)
10. spasms, tremor, twitch, jerk
-Do you get spasms in your back?
0% No (12B-35)
-Do you get spasms in your abdomen?
35.71% No (12B – 36)
-Is it hard to stay still because your body is always jerking?
46.15% No (12B- 29)
11. lying down and sleeping
-Do you have fewer symptoms of dystonia when you lie down?
42.86% Yes, often
14.29% Never. The dystonia is always the same (12B-50
-Is it hard to lie flat, as if your body wants to arch and to keep the head off the pillow?
66.67% No (12B – 28)
-Do you feel most comfortable lying on your stomach?
7.14% It makes no difference
78.57% No and that position is actually uncomfortable (12B- 49)
12. twisting, bending , curving, arching
-Does the dystonia twist your body?
28.57% No (12B- 7)
-If you try to stretch both arms at the same time, does your body twist to one side?
53.85% No (12B-32)
13. daily activities – sports, read book, computer
-Is it hard to keep your body straight in front of a computer?
14.29% No (12B- 16)
-Is it hard to keep your body still in front of a computer?
21.43% No (12B- 17)
-When you hold a book in your hands does your body tend to tilt?
46.15% No (12B-23)
-Is it hard to sit still and hold a small child on your lap?
35.71% No ( 12B- 18)
-These questions ask about daily activities.
100% It is hard to find a comfortable sitting position
100% It is hard to find a comfortable sleeping position
0% When the weather changes, my dystonia is more active
0% Sometimes the twisting and turning wakes me at night (33-4)
(low number of respondents to this question)
-Do back spasms interfere with you ability to play ball games?
54.55% No (12B- 37)
-Do back spasms interfere with your ability to swim>
69.23% No (12B-38)
14. sensory tricks
-Does the dystonia get less when you press at the inside of your shoulders?
76.92% It has no effect
23.08% It gives some relief (12B – 48)
-Does the dystonia get less when you touch the centre of your sternum between your breasts?
83.33% It has no effect
16.67% It brings some relief (12B- 47)
-These questions ask about situations where the dystonia seems surprisingly less.
50.00% The dystonia is less if I put my hand behind my head
0% The dystonia is less if I walk backwards
0% The dystonia is less if I run not walk
0% The dystonia is less if I go around a track counterclockwise
50.00% The dystonia is less if I bend my elbows and rest my chin on my hands
with clenched fists (praying mantis position)
50.00% Not applicable (33-8)
(low number of respondents to this question)
-These questions ask about situations where the dystonia seems surprisingly less
0% The dystonia is less if I bend my trunk forward
0% The dystonia is less if I fold my arms across my chest
0% The dystonia is less if I raise my arms out from my sides
0% The dystonia is less if I hold my hand above my head
0% The dystonia is less if I put an object on top of my head
100.00% not applicable (33-7)
(low number of respondents to this question)
15. coping- sleeping, control of twitching
-Do you arch your arm over your head at night to try to reduce the pain and jerky movement?
61.54% No (12B- 31)
-Do you sometimes hang onto the edge of a table or counter to seem less twitchy?
28.57% No (12B- 54)
-When sitting do you reduce twitching by putting your hands under your legs?
7.14% Yes often
35.71% Never (12B-52)
-Do you cope with restless movements by putting your hands in your pockets, holding a zipper or in other ways in a restricted position on purpose?
28.57% Yes, often
21.43% No (12B- 51)
-When lying down do you reduce restless movements by putting your hands under your pillows?
57.14% No (12B-53)
-These questions ask about things you have tried to help cope with dystonia
0% It is easier for me to ride a bicycle than to walk
0% My dystonia is less if I wear a low slung backpack
50.00% My dystonia is less when sitting if I lean my head against a chair
50.00% My dystonia is less standing if I lean my head or back against a wall
0% My dystonia ies less walking if I press my back against the wall and slide
50.00% not applicable (33-6)
(low number of respondents to this question)
16. bike, car
-Is it difficult to sit on a bicycle seat or motorcycle?
33.33% No (12B – 19)
-These questions ask about devices to help with dystonia.
100.00% I sometimes use a cane or walking stick
0% I sometimes use a walker that I lift and reposition. It has no wheels
0% I sometimes use a walker with two wheels
50.00% I sometimes use a walker with four wheels
0% I sometimes use a chair on casters to roll around the room
0% I sometimes use a wheelchair
0% I sometimes ride a bicycle
0% I sometimes use an adult tricycle
0% not applicable (33-5)
(low number of respondents to this question)
High numbers of respondents reported that it is difficult to sit straight or still in front of a computer because of the dystonia, The fact that any did respond is commendable. A more efficient way to get responses from those with trunk dystonia may be an oral question option..
A few of the question had low response numbers but the questions may still be useful to ask in future surveys were there a large number answering. The statistics from those who did take part may still be of use to show trends.
The designation of dystonia that affects the trunk is not a clinical one and many who responded may have been also eligible to take part in the surveys of the legs and feet. Results of those surveys may be useful to compare.
type of dystonia
There are many formal categproes for dystonia and one division category is age of onset. Another is how much of the body is involved -whether just one point or many.
With trunk dystonia the pattern seems to be early onset and the involvement of the trunk may have begun with at first just the feet. These division categories by official label are very useful to clinicians but patients may be actually in several categories over the course of the condition.
These surveys suggest that some features of this dystonia may be unique – age of onset, spread, the experience of jerking motions not just positional pressure. This condition tends to get less mention of sensory tricks. It is also likely though not asked here, that this type of dystonia is debilitating very early, that it interferes with education and career options from the start and as a result likely with finances, and travel. The questions about whether those with this type of dystonia had applied for disability benefits were not asked but one would expect a high number had had to do so.
This is a very visible form of dystonia according to the surveys
57.14% report their body as they stand is not mostly symmetrical
53.85% say the dystonia has changed the position of their abdomen
53.85% say they think their lower back is starting to curve
38.46% report that the body bends so much they have trouble standing
voluntary or involuntary
Patients report that the condition observed by another party may appear to be random involuntary motions but it may also be the result of voluntary motions to correct for the dystonia.
The surveys suggest both phenomena are operative.
random involuntary motions
78.57% report that when sitting they brace themselves against the chair frame
78.57% report that it is hard to keep their body still n front of a computer
53.85% report that it is hard to stay still because their body is always jerking
35.71% report that when sitting they hang onto something to keep still
voluntary actions to try to adjust for the dystonia
92.86% report that it is hard to find a position free of pain so they keep moving around to find one
78.57% report that when standing they shift their weight back and forth to stabilize themselves
78.57% report that they often or sometimes cope with restless movements by putting
their hands in their pockets, holding a zipper or in other ways (adopting)
a restricted position on purpose
actions where it is unclear if they are fully involuntary or partly also voluntary correction
7.69% report that they rock back and forth as they sit
the challenges of dystonia
tightness of muscles
85.71% report that their back muscles tighten as they stand up
pressure sensed, tilt
71.43% report that their body feels pulled to one side
46.15% report that their body feels pulled two ways at once
38.46% report that their body feels pulled backward
33.33% report that their body feels pulled forward
tremor, twitches, spasms,
100.00% report they get spasms in the back, often or sometimes
71.42% report they often or sometimes hang onto the edge of a table or counter
to seem less twitchy
64.28% report they get spasms in the abdomen often or sometimes
64.28% report that when sitting they reduce their twitching by putting their hands
under their legs often or sometimes
bending, curving, arching, twisting, that are difficult positions to move from
71.43% report that dystonia twists their body
35.71% report that their body bends so much they have trouble walking at all
35.71% report that their trunk bends forward at the hips while their neck extends
33.33% report that it is hard to lie flat because the body wants to arch and keep the head
off the pillow
There may also be a difference in the trigger for the problems above, whether they happen at rest or only at the start of a motion.
53.85% report that when they hold a book in their hands their body tends to tilt
46.15% report that when they try to stretch both arms at the same time, their body
twists to one side
23.08% report that when they walk their head arches backwards
92.86% report they are in pain when standing nearly constantly or sometimes
92.83% report they are in pain when sitting nearly constantly or sometimes
78.88% report they are in pain walking most of the time or sometimes
71.43% report they are in pain lying down nearly constantly or sometimes
Pain compounds several problems because the condition already looks unusual and hampers motion. The fact it is also painful and that the pain does not change significantly with adjustments to position is an interesting feature of the condition. It suggests that the pain is not just a sensory message from the muscle or nerves to the brain but that it is a message inherent in itself, from several areas of the muscle regardless of position or even a defective permanent feedback error between brain and muscle. The surveys on the effect of massage, heat, exercise and even resting on an object to reduce pressure of gravity may be helpful to study alleviation of pain. Those efforts do not seem fully successful.
92.85% report that their back aches often or sometimes
Pain caused by touch seems lower.
23.08% report that it causes discomfort to touch along the side of the body
21.43% report it causes discomfort to touch under the armpit
50.00% reported that their dystonia did not move up the body to legs, arms, neck and then face,
35.71% reported it moved from legs to arms
21.43% reported it moved from arms to neck
14.29% reported it moved from neck to face
The patterns of movement could be compared to results from other surveys for instance of neck dystonia where some reported it had come from the face and others reported it moved down the arm. Were such patterns correlated with other features of the dystonia this may help predict progression of the condition, and answer a question patients are often keen to hear about. Were there such patterns it may also be possible to arrest the progression at some point and prevent the spread, were a treatment found to do that.
sleep and dystonia
This survey did not ask if dystonia happens during sleep. However the survey found that many people have difficulty getting comfortable in order to sleep. It is not clear if the twitches, muscle tightness, pressure or pain cause this problem.
100% report it is hard to find a comfortable sleeping position
85.72% report that they have fewer symptoms of dystonia often or sometimes
when they lie down
71.43% report they are in pain nearly constantly or sometimes when lying down
42.86% report that when lying down they reduce restless movements by putting
their hands under their pillows
38.46% report that they arch their arm over their head at night to try to reduce the
pain and jerky movement
A separate examination of sleep and dystonia is done in a later chapter.
The nature of the tilts, to one side or the other, forward or back, the nature of the bending of the trunk, the nature of the pressure felt from one side, front or back may be quite different physiologically. It may be interesting to determine if the tilts correlate with handedness or eye preference or any natural weakness or strength on one side of the body. It may be useful to study if the turning of the head one direction or the other affects the dystonia differently correlated with these other factors.
46.15% reporrt that their sense of balance when standing is different when they turn their head to the left than when they turn their head to the right
The directional aspect of dystonia may be useful to compare with results from other surveys, in particular that of cervical dystonia to see if there are similarities.
A separate examination of orientations and dystonia- left right, up down, open closed, bent, curled is made in a later chapter.
The gait of those with trunk dystonia is often challenged.
The relationship of the eyes and ears to balance has been studied but in the case of dystonia may also bear examination. In this survey closing the eyes was reported to affect balance
64.29% reported that when they close their yes their sense of balance is different
46.15% reported that the sense of balance when standing differed depending on which way they turned their head
It is not clear if eye function is normal in cases of dystonia of the trunk. In cases of cervical dystonia it is anecdotally reported that the eyes take a split second longer to register a new position and seem delayed slightly as they adjust to a new head position. Dystonia of the eyes is usually of the eyelids and not the eye muscles themselves. However it may be useful to study if there is a delay in eye muscle function in any form of dystonia, in particular where balance is affected. Closing the eyes may be restful to prevent the delay aspect from becoming a confusion. Whether a person is dizzier or less dizzy with eyes closed, or dizzy at all, was however not asked.