DYSTONIA

BY
DR. KISHORE.K.K
Overview
Definition, Epidemiology
Pathogenesis
Classification
Etiologies
Clinical presentation
Primary Dystonia
Dystonia Plus Syndromes
Approach to diagnosis
Treatment

Definition
Dystonia is a movement disorder
characterized by sustained or intermittent
involuntary muscle contractions causing
twisting and repetitive movements,
abnormal postures
It may affect any body part including the
arms and legs, trunk, neck, head, or face
Dystonia is something you see
Epidemiology
Focal dystonia
30 per 100,000
Generalized dystonia
3 per 100,000
5 10 times greater in Ashkenazi
Jewish
Generalised dystonia (Dystonia
musculorum deformans) is most common
form seen in children
Pathophysiology
Dystonia is likely related to loss of inhibition of unwanted
accessory muscle activity
Functional disturbance of the basal ganglia. In particular
striatal control of the globus pallidus and the substantia
niagra par recticularis is impaired.
There is an alteration of thalamic control of cortical motor
planning and execution of movements, reducing the
brainstem and spinal cord inhibitory mechanisms resulting in
prolonged abnormal contractions of agonist and antagonist
muscles.
In children, dystonia may also occur with decreased
dopamine as occurs in dopa-responsive dystonia (DRD) or in
response to dopamine-blocking medications.
Classification

In medicine when we do not understand an
entity, we classify it!

Age of onset
Distribution
Etiology
Classification: Age of Onset
Early Onset childhood, adolescent
Hereditary, generalized, progressive
Limb onset (often leg)
Idiopathic torsion dystonia (DYT1) and
doparesponsive dystonia
Late Onset adulthood
Idiopathic, focal or segmental, non
progressive
Cervical, cranial, occupational
Classification: Distribution
Focal Dystonia
affecting a single body part or location
Segmental Dystonia
affecting adjacent body parts
Hemidystonia
affecting one side of the body
Generalized
affecting more than 2 segment of the
body
Classification: Distribution
Focal dystonia
spasmodic torticollis (cervical dystonia),
blepharospasm, writers cramp, spasmodic
dysphonia (laryngeal dystonia)
Segmental dystonia (2 contiguous body parts)
cervical dystonia + shoulder,
Meiges (jaw dystonia + blepharospasm)
Generalized
Usually begin in one limb and then generalize
DYT1 (idiopathic torsion dystonia), dopa
responsive dystonia, secondary dystonias
Classification: Etiology
1. Primary dystonia
no structural abnormality in the CNS (often
genetic)
2. Dystonia Plus Syndromes
primary dystonia + parkinsonism, myoclonus
3. Secondary Dystonia
demonstrable exogenous or structural
4. Heredodegenerative Dystonia
underlying brain degeneration
Etiology
Primary Dystonia
Childhood onset idiopathic torsion dystonia (DYT-1)
Dystonia musculorum deformans
Adult onset idiopathic dystonia (focal, segmental)
Dystonia Plus Syndromes
Dopa-Responsive Dystonia
Dystonia-Myoclonus
? Dystonia- Parkinsonism
Etiology
Secondary (Acquired)
structural lesion (basal ganglia putamen, globus
pallidus, subthalamic nucleus or thalamus)
Stroke, tumor, AVM, injury
perinatal hypoxia (associated with cerebral palsy)
CNS infections, inflammatory disorders
toxins cyanide, carbon monoxide, methyl alcohol
drug induced (tardive dystonia)
neuroleptics, antiemetics, antiepileptics
acute dystonia reaction - neuroleptics
Etiology
Heredo-Degenerative
Wilsons Disease
Huntingtons (Westphal variant)
Spinocerebellar Ataxia
Parkinsons (early onset, late in disease), Parkinsons Plus
Syndromes
Neuroacanthocytosis
Mitochondrial (Leighs disease, Lebers)
PKAN (pantothenate kinase- associated neurodegeneration
-Hallovorden Spatz)
Fahrs syndrome (basal ganglia calcification)
Ataxia Telangiectasia
Glutaric Aciduria I, storage disorders
Clinical features
Dystonia usually occurs during
voluntary movement or with voluntary
maintenance of a posture of the limbs
or body.
There is often no abnormal muscle tone
in children, it may be either stiff or
floppy, or change with time
Clinical features
The timing of dystonia throughout the day is
important.
Dopa-responsive dystonia may improve upon
awakening in the morning or after a nap; then
the symptoms may become progressively worse
throughout the day.
Other forms of dystonia may be worse upon
morning awakening.
Dystonia is usually not present during sleep.
Continued stiffness of the limbs during sleep
suggests possible spasticity or fixed joint
contractures.
Characteristic postures
"Spooning," during which the fingers of the hand
are bent backward with the wrist flexed
Elbow and wrist flexion with the hand held near
the body
Foot in-turning or inversion at the ankle, which is
frequently made worse with walking
Upward extension of the great toe
Turning of the neck or "torticollis"
Jaw or facial contortions

Cervical
Dystonia

spasmodic torticolis
Affects the muscles of the neck, causing
stereotyped abnormal head and neck posturing.
The head can deviate in various directions,
including rotation (torticollis), tilt to the side
(laterocollis),pulling forward (anterocollis), or
pulling backward(retrocollis).
Blepharospasm

Blephrospasm is the result of involuntary
contraction of the orbicularis oculi
muscles causing intermittent or
sustained bilateral eyelid closure

Spasms are made worse by stress,
exposure to bright light or wind .

Focal Limb Dystonia
FLD occurs when a limb
develops involuntary
twisting repetitive
muscular contractions,
causing abnormal
posturing
LD is typically task
specific , occurring
primarily when the p.
performs a certain action

Writers cramp
writers cramp is an example
of LD that only occurs when
a person is writing

The fingers generate an
abnormal forceful grip, or the
fingers may hyperextend,
preventing the grip of the
pencil. The wrist will also
frequently over flex or
extend

Primary Torsion: Childhood
Idiopathic (primary) torsion dystonia (DYT1)
onset mid to late childhood (8 14 years)
marked by early limb onset (usually leg)
and spread to other limbs and axial muscles
begins as action dystonia, progresses to
also occurs at rest
generalize within 5 years
normal intellect, may present as late as
early 20s
Primary Torsion Dystonia:
Childhood: Genetics
Autosomal dominant, 30 % penetrance
5 10 x higher in Ashkenazi Jews
chromosome 9q32 -34
DYT 1 gene protein torsin A, function nuclear
membrane protein, ATPase proteins
Deletion mutation of GAG trinucleotide with loss of
single glutamic acid (DYT 1 mutation)
likely other loci - DYT4 (AD), DYT2 (AR), DYT6
DYT1 testing is recommended for all individuals
with early-onset PTD
Dopa-Responsive Dystonia
(Segawa DYT 5)
Enzyme is guanosine triphosphate (GTP)
cyclohydralase 1(AD), Thyrosine
hydroxylase(AR)
Onset is 4 8 years of age
Begins with abnormal gait that worsens as
the day progresses and improves with sleep
Gait stiff legged-scissor gait, plantar flexion,
+/- hyperreflexia
Dopa-Responsive Dystonia
(Segawa DYT 5)
Often misdiagnosed as cerebral palsy
Rarely begins in arm or trunk
May develop parkinsonian features
(rigidity, bradykinesia and tremor)
Dramatic response to levodopa at 100
300 mg/ day and tetrahydro bioptrin

Dystonia-Myoclonus
DYT 11
Onset with myoclonus usually of upper limbs and
neck > legs
Dystonia may accompany myoclonus
Begins in childhood and early adolescence
Autosomal dominant with reduced penetrance and
variable expression
Mutations of the epsilon-sacroglycon gene
Chromosome 7, DYT 11
Improves with combination of trihexyphenidyl
hydrochoride and valproic acid
Case 1
A10-year old girl of ashkenazi Jewish
descent presented with increasing difficulty
walking

When in a seated position she felt fine, but
as she tried to walk, her left foot inverted,
causing her to walk on the outside of the
foot.
Case 1
Interestingly, when she walked backward,
the foot straightened out and was flat on the
ground.
Her hand tired after 10,and she had to press
very hard on the paper to achieve the proper
hand control.
When writing her right hand flexed at the
wrist, her forearm muscle appeared tense,
and she elevated her right shoulder. Subtle
inversion of the left foot occurred when she
concentrated .

Case 1
The patient was born of a normal
pregnancy and delivery. She achieved
normal developmental milestones.
Family history was positive for a
grandfather with an abnormal gait starting
in childhood who had been diagnosed with
mild cerebral palsy.
Case 1
The pt was treated with carbidopa/levodopa
titrating up slowly to 300mg tid with no
benefit, ruling out the possibility of dopa-
responsive dystonia as a dg.
Normal MRI, decreasing the likelihood of
secondary [Link] pt then tested positive for
the DYT1 gene.
She started taking trihexyphenidyl 8mg
tid/day,and her walking and handwriting
were moderately improved.

Case 1
This case illustrates a classic example of a
patient with young-onset primary
generalized DYT1 +ve dystonia

Treatment with trihexyphenidyl was effective
in improving her symptoms at high doses

If medication therapy had not been helpful
then DBS surgery would have been the next
treatment option to consider

Treatment
Focal / Segmental
Botulinum toxin injections to affected
areas
Medications
Primary Generalized
Oral Medications
Intrathecal baclofen
Surgery
Medications
Levodopa
everyone should be given a trial of sinemet
especially children
Treatment of choice for Dopa-Responsive
Dystonia (low doses 100 to 300 mg)
other causes of dystonia may respond to
levodopa
Medications
Anticholinergics
Trihexiphenidyl (Artane)
Start at 1 mg daily and increase weekly to effect,
in children may go up to 30 or 40 mg
Side effects - confusion, drowsiness,
hallucinations, forgetfulness, personality changes,
dry mouth, blurred vision, and urinary retention.
One poorly designed RTC showed 50 %
improvement
Medications
1. Dopamine Depletors/ Blockers
Tetrabenzine
Clozapine
Olanzapine
2. Benzodiazepines
3. Baclofen (oral and intrathecal)
Botulinum Toxin
Focal or segmental dystonia
(blepharospasm and cervical dystonia)
Injected to affected area, highly effective but very
expensive (Botox A)
mechanism:
blocks the release of acetylcholine, a
neurotransmitter responsible for activation of
muscle contraction
decreases inappropriate or excessive muscle
contractions locally of the affected area (e.g., arm,
neck, leg, eyelid, etc.)
Surgery
Pallidal Deep Brain Stimulation
Series only ~ 50 % improvement
Better results with primary generalized dystonia
Mixed results with secondary generalized dystonia
Pallidotomy, sterioststic thalamotomy
Implantation of the intrathecal baclofen pump
Other surgical procedures for dystonia include
cutting muscles or lengthening tendons to help
reduce the effect of the dystonic muscles
Non Medication Treatment
Occupational focal dystonia
Supportive therapy
Physiotherapists, occupational therapist,
speech therapists,
Education, support groups
THANK YOU