Over the years doctors have struggled to believe, identify and classify this condition. Now it is recognized as a real thing, with brain scan evidence on some MRIs and blood flow and neurotransmitter level changes in others. There are also identifiable genetic links to some forms of dystonia.
Many types of dystonia have now been identified (some say over a hundred) and researchers have often changed the labels as they got to understand it better.
In an effort to understand the labels we are given, here is a brief look at the categories that seem to be used. Of course for your own situation it is best to consult your doctor.
Here is my best understanding so far from looking at texts, research studies and foundation websites.
CATEGORIES
a. based on when you got it
- early onset
- pediatric
- young onset
- adolescent onset
- adult onset
- late onset
b. based on where it affects you
- axial- trunk
- blepharos- eyelid
- brachial – arm
- cervical, col – neck
- cranial – head
- crural – leg, thigh
- facial
- forearm
- hand
- layrngeal – vocal cords
- lower limb dystonia
- lingual- tongue
- mandibular -jaw
- masticatory- chewing muscles
- oral – mouth
- peripheral- away from the centre, eg. hands, toes
- upper limb dystonia
- Or the combinations, eg:
- craniocervical – head and neck
- oromandibular -mouth and jaw
- Meige syndrome- eyes, mouth, neck
- 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
- 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/genetic
- familial- appears in families though a genetic link is not yet known
- dominant- genetic and more likely to be passed on
- recessive- genetic but less likely to be passed on
- 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
- eg. dopa responsive
- non dopa responsive
- refractory- does not respond to a treatment
f. based on likely causes
- action induced
- drug induced
- exercise induced
- genetic/ familial/ hereditary
- idiopathic – from unknown cause
- not action induced
- trauma induced
g. based on severity
- mild
- acute
- sporadic (variant) – occasional
- forme fruste – partial
- forme pleine- full version
h. based on positions or motions related
- antecollis- head tilt forward
- antere- forward
- cramps
- extension- stretching out the muscle
- flexion- bending the muscle, tightening it
- lateral left or right – tilting left or right, tilt to shoulder
- retre- backward
- retrocollis- head tilt 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. For example, 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
- mobile- action-induced
- fixed- abnormal posture even at rest
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
(eg. 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
- myoclonus dystonia -brief lightning like jerks or twists of neck, trunk, upper limbs
- rapid onset dystonia-parkinsonism
CHANGE OF LABELS OVER TIME
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 abnromalities)
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, eg. 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
2020- some researchers say dystonia is a descriptor not a diagnosis
AREAS OF POSSIBLE CONFUSION
Some of the terms may be easy to confuse for the layman (like myself)
- tone – pitch, musical sound quality, mood, style
- muscle tone – control of muscle contracting, stretching, posture, balance, reflex
- tonic (for beverages or treatments) invigorating, health restoring
- tonic (for muscles) related to muscle contractions and stretching
- tonic water – a specific bitter carbonated soft drink usually with quinine in it
- spasmodic- means with spasms
- sporadic – means occasional
- dysphonia – is problem speaking and may be from other causes, though spasmodic dysphonia is a type of dystonia
- dystonia – muscle stiffening, painful contractions, abnormal postures, muscle cramps
- dyskinesia – small involuntary movements, soft tics in limbs, sometimes associated with the brain neurotransmitter dopamine
Not to be confused with other dis/dys conditions
- dysgraphia – poor handwriting
- diplopia – double vision
- dysplasia – abnormal cell growth
- dyspnea- shortness of breath
ACRONYMS
Many of the conditions have been abbreviated into initials in research studies and eventually among patients. However for the layman some of these may seem confusing at first also, eg:
- CD: not compact disc but cervical dystonia
- SD: not standard deviation or South Dakota but spasmodic dysphonia
- DYT: not DIY do it yourself or DUI driving under the influence but on the DYT gene
- M-D: not medical doctor or muscular dystrophy but myoclonus dystonia
- TD: not a Toronto Dominion banking group but torsion dystonia
ALPHABETICAL LIST OF TERMS
Here is an alphabetical list of some of the terms used over time describing dystonia:
- acquired dystonia- caused by disease, infection, injury, known cause
- action induced
- acute
- adolescent onset
- adult onset
- alcohol suppressed
- anterocollis- head tilts forward
- axial dystonia- trunk
- blepharospasm- eyes
- brachial- arm
- clonic- rhythmical or sustained jerking
- craft palsy
- cranial- in head
- craniocervical – head and neck
- cranio-facial – head and face
- crural- leg, thigh
- dopa responsive
- drug-induced
- dystonia lenticularis
- dystonia muscularum deformans
- dystonia -plus syndromes
- DYT labels – DYT 1-25- for types with genetic link
- early onset
- embouchure dystonia
- exercise induced
- facial
- familial dystonia
- fixed dystonia – see pseudo dystonia
- focal – one part of body
- forme fruste (partial)
- forme pleine( full blown)
- functional dystonia -affecting face, neck, shoulder, limbs and/or torso
- generalized dystonia
- genetic dystonia
- hand dystonia
- hemidystonia – upper and lower limbs on same side of body
- hereditary dystonia
- idiopathic- appears out of the blue, no known cause
- inherited
- kinesigenic
- laryngeal dystonia
- late onset
- laterocollis- tilts to shoulder
- lingual
- lower limb dystonia
- Meige syndrome – eyes, mouth, neck
- mild
- multifocal- two or more unrelated pats of body
- musician’s cramp
- musicians’ dystonia
- myclonus dystonia
- non – kinesogenic
- non dopa responsive
- nonhereditary
- Oppenheim’s – early onset torsion dystonia
- oromandibular
- paroxysmal- PD – brief attacks of movements and postures
- pediatric dystonia
- peripheral- outside brain or spinal cord
- pianist’s cramp
- primary dystonia- appears out of the blue, no known cause
- primary generalized dystonia
- primary torsion dystonia
- progressive torsion spasm
- progressive torsion spasm
- pseudo dystonia – often nerve injury, muscle weakness, stiff limbs, has no sensory tricks
- psychogenic dystonia- functional, not strictly dystonia but has some features of it
- rapid onset dystonia-parkinsonism
- retrocollis- tilts back
- rotational collis- turns to one side
- runners’
- Scrivener’s palsy
- secondary dystonia-caused by disease, infection, injury, known cause
- segmental – two or more adjoining parts of body
- spasmodic dysphonia
- spasmodic torticollis
- sporadic
- tardive dyskinesia
- tardive dystonia
- task specific dystonia
- tonic cramps
- torsion dystonia
- torticollis
- trauma induced
- truncal – trunk
- typist’s cramp
- upper limb dystonia
- variant (sporadic) dystonia
- vegetovascular dystonia-irregular eye pupil changing, mucous membranes drying
- writers cramp
- X-linked dystonia parkinsonism
- young onset
Lived Experience With Dystonia 