Transcript Dystonia - Welcome to Selam Higher Clinic

Movement disorders
• Disturbance in speed or fluency of voluntary
movement
or
• the presence of unintended extra movement
• Extrapyramidal diseases
• Hyperkinetic excessive amt of spontanous
motor activity and abnormal involuntary move
occur
• Hypokinetic Cx by akinesia or bradykinesia in
which purposeful motor activity is absent or
reduced
Basal ganglia
• Basal ganglia regulate the initiation,scaling
and control of the amplitude and direction
of movement
• Movement disorders arise from
biochemical or structural abnormalities in
these structures.
..con
• Clearing house
• during an intended /projected movement
one set of activities is facilitated all the
other are surpassed
• BRAKE prevents the target structures from
generating unwanted motor activity
• Switch selects which of the many available
will be activated at any given time
SWITCH
BRAKE
Evaluation of the pt
• Hx and P/E
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Drug exposure
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systemic illnesses
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family hx
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developmental milestones
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other neurological abnormalities,neuroimaging
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agg/ptting factors
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degree of functional impairment
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Onset/progression
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psychosocial issues
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Neuor psychiatric abnormalities
Parkinson’s disease
• Most common eg of neurodegenerative disease that results from
decreased dopaminergic transmission with in the striatum.
• Characterized by bradykinesia
tremor
rigidity
flexed posture/shuffling gait
• Idiopathic in 75%
• Familial
5%
• Other causes 20%
• Strongest risk factor is age >60yrs
others male, family Hx ,rural living
• Coarse 10-25yrs
Pathogenesis
• Degeneration of dopaminergic neurones
• LB containing alpha synuclein as the main
component
• I/V of the anterior olfactory nuclei
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Locus corleulus
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Basal forebrain amygdala
• substantia nigra pars compacta
Manifestations
• Bradykinasia the most disabling
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bulbar
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limbs
Regidity
Tremor
Gait /posture
Non motor features
sensory symptoms
Neuropsychiatric
Autonomic
Cognitive
DDx
DDx
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Cognitive abnormalities
Hyperactive tendon reflexes
Babniski’s signs cerebellar signs
Ocular motility abnormalities
Prominent postural instability
Major autonomic manifestations
Poor response to levodopa
Symmetry of symptoms
…CON
• Lack of tremor
• Differentiating these syndromes may take
2-4 YRS
Ddx for pd
Drug therapy
• Levodopa
• Dopamin agonists
Bromocriptin/pergolide
pramipexol/ropinirol
• MAO inhibitors
selegilin
• COMT inhibitors
entecapone
telcapone
• Anticholinergics/Amantadin
…con
• Initiate when the disease starts to interfere
with the functional status of the pt
• Which to initiate depends on the
age
Phenotype of the disease
cognitive symptoms
stage of the disease
cost
Therapy
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Goal is to restore dopamin transmission
in the striatum
Principles
1. Maintain the function and the QOL
2. Avoid drug induced complications
3. Prevention of secondary disabilities
4. Neuroprotecive therapies
…con
• Levodopa is the well established as the most effective
drug for the symptomatic Rx of PD
• Particularly effective for the akinetic Sx.tremor and
regidity can also respond
• Initiate with small doses 100/25
• ½ tab
• Complete absence of response to doses of
• 1-1.5gm strongly suggests that the original diagnosis of
PD was incorrect
• Motor fluctuations
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dyskinesia/dystonia
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50% of the pts treated for >5yrs
..con
• Initiate with dopamin agonists
• Titrate slowly
• Add levodopa when sym fail tobe
controlled
• Lesser control of motor symptoms
• Higher neuropsychiatric symptoms
• Delay the onset of the motor s/e of early
initiated levodopa
Augmentation
• Selegilin less effective sx
?neuroprotective
• Added to alleviate tremor or to prevent the wearing effect of
levodopa
• Anticholinergic particularly to control the resting tremor and dystonia.
• Amantadin for drug induced dyskinesia
• Non motor Sx
antidepressants
atypical antipsychotic
• Neuroprotective
• Surgery/DBS
Dystonia
Sustained muscle contraction which
produces repetitive movements with
twisting and abnormal posturing
Directional quality with specific pattern
• Action dystonia voluntary mov. Which use the
affected grp of muscle results in dystonia or
worsens the condition
• Overflow those muscle grps that are not called
for the particular action could get involved
• Sensory tricks specific procedures tend to
abolish or decrease it for some time
• Intensified by stress
• Tremor
Pathophysiology
Primary UK
Role of dopamin
levodopa
Parkinson’s
Antipsychotic drugs
Impaired inhibition of multiple levels
‘disturbed surround inhibition’
Enlarged sensory motor representation
Classification
Anatomical distribution
Age
Etiology
Primary
Secondary
dystonia plus
Paroxysmal
Genetics
DTY1-13
Topographic class
Focal dystonias
Adult onset(4 and 5th decades)
primary dystonia
 F:M 3:1
Coarse extremely variable
Periodic → action → overflow
rest →
posture → Contracture
30% progress to segemental
some to multifocal
Most cases stabilize with in 2-3yrs
Remission is common in cervical dystonias
Cervical dystonias
• Commonest of all focal dystonias
• Jerky head movements / unnatural neck
postions
• Neighboring muscle i/v
• Commonest dystonia that responds to neck
tricks
• 2/3 neck pain
• 1/3 head tremor
• 10%brief spontanous remission
Blepherospasm
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Intermittent/sustained closure of the eye
Grimacing
May begin in one eye
Photophobia /excessive blinking
Interferance in ADL →fun blindness
Sensory tricks singing hamming talking
laughing and yawning
Blepher…
Oromandibular dystonia
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Jaw,mouth,lower face
tongue may be involved
Trismus/bruxism protrusion of the jaw
Jaw pain difficulty of eating/speaking
Sensory tricks chewing gum ,talking placing toothpick
Spasmodic dystonia either adduction or abduction of the vocal
cords
Adducted strangled hoarse restricted
Speech is interrupted by sudden short pauses followed by abrupt
burst and become less and less understandable
Abducted breathy whispering in quality
unable to speak loudly
Sensory tricks pressing the hand over the abdomen
Oromandibular dystonia
Limb dystonia
• Upper limb tend to be task specific
• The activites which are affected most of the time
are those which require highly specialized
precise actions or extremely repetitive
movements
• Writers cramp
• Musicians
• Tennis players
• rarely in the lower limbs
Hand dystonia
..con
• Lower limbs primarily the ankle and the foot
• Inward turning of the foot and upward turning of
the sole
• Onset is during childhood
• Tend to generalize
• Adult hood needs diagnostic evaluation
• Hemidystonia type of multifocal dystonia
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Secondary to underlying causes
• Generalized
Foot dystonia
Treatment of dystonias
• Social support
• Rehabilitation
• Drug therapy
Anticholinergics
benzodiazepines
Baclofene
dopaminergic drugs
antidopaminergics
• Botulinum toxin Localized disease
• Surgical therapy
CHOREA
• Irregular involuntary rapid and
uncontrolled mov
• Random flow from one part to the other
• Hand face legs and trunk
• Mov are continually changing
• Hemiballismus differs from chorea in its
amplitude of mov and rotator components
of the motion
Causes
• Static injury
cp,encephalitis,kernicturus
• Heriditary/degenerative
• Chemical /metabolic
Wilson’s ,vitE def,hypoparathyroidism
• Immune mediated
• Medications neuroleptics/CCBs/AEDs
Con
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Sydenham’s chorea
18_36% of pts with ARF
1-8mon a/f initiating infectn
Insidious in onset
Emotional changes
Vasculitis of the BG cortex cerebellum
Gradual imp within 12-15 wks
Huntington’s chorea
• Heriditary disease that is Cx by
chorea,dementia and emotional abnormalities
• Earlier age of onset 35-45
• Coarse 15-20yrs
• Chorea peaks in the first 10 yrs
• Then bradykinesia/regidity may predominate the coarse
• Westphalt syndrome
• Dementia
• Emotional instabilities disorders of affect
explosive emotional dis
Treatment
• Multidisciplinary Mx
• Avoid injuries,exhaustion,and dehydration
• Neuroleptics haloperidol
pimozide
• Benzodiazepines
• AEDs valproate
Tics
• Stereotyped mov that may be repeated or
continues
• Similar to normal mov but involuntary
• Sense of build up and temporary relief
• Boys are more affected
• Tend to be ass with OCDs and HADS
• Waxing and waning coarse
• Resolve spontaneously
• Release phenomenon due to damage to the SN
• ?? Infectious cause PANDAS
CON
• Quality of life
• Neuroleptics halloperidol pimozide
• Atypical anti psychotics clozapine
resperidone
• Clonidin,clonazepam,antidepressant
Tremor
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Involuntary rhythmic osscilatory
10-20 fold of PD
Commonest mov’t disorder
Significant disability but often remains unrecognized
Writing speech fine manipuln
ADL feeding drinking dressing
• classificn
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by the body parts the tremor involvs
LIMBS
head
TRUNKAL
palatal….
Con
• Rest and action
1. Rest when the muscles are not activated
2. Action when there is voluntary muscle contraction
kinetic with any form of voluntary con postural
isometric
intention
Task specific
Using frequency
Physiological high frequency 8-12
Pathological LOW frequency <7
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Essential tremor
• Bilateral largely postural/kinetic
• i/v the hands and forearm
• persistent and visible
• In the absence of other neurological
findings and physiological abnormalities
• M=F
• 40-60 yrs
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Precise mechanism is unknown
Pathology/structural lesion
Centeral source of tremerogenic oscillation ‘pacemaker’
Olivocerebellar rubral circuit
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Tremor syndromes
enhanced physiological
indeterminate tremor syndrom
orthostatic tremor syndrome
task specific syndromes
Holme’s tremor
Drug induced or toxic…..
Rx
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Primidon/propranolol
Benzodiazipines
Gabapentin/topimerate
Thalamotomy/DBS
References
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Harrison’s 16th edt.
Uptudate 14.3
www.wemove.com
Nejm august 2006
Keep moving