Tremor, Dystonia & Chorea

Question 1

Give definitions for the following:

• Tremor
• Tics
• Chorea
• Myoclonus
• Dystonia
• functional

Answer 1

• rythmic sinusoidal oscillation of a body part
• involuntary stereotypes movements or vocalisations
• brief irregular purposeless movements which flit and flow from one body part to another
• brief electrical shock like jerks
• abnormal posture of the affected body part

Question 2

Tremor

• why does this occur?
• how can they be classified?
• give the 6 types of tremor?
• what should be asked in Hx? (8)
• Examination?
• inv?
• treatment?

Answer 2

-usually due to alternate activation of agonist and antagonist muscles

-Positions: at rest, on posture, or during movement
Distributions: body part affected
Frequency: in Hz
Amplitude: fine or course

-Resting
Postural
Kinetic 
Head 
Jaw
Palatal 

-age at onset?
where affected?
precipitating factors?
drug/toxin exposure?
excas/relieving factors
assoc neurological symptoms 
assoc systemic symptoms?
Family Hx 

-at rest, on posture, during movement
Ask patient to write and copy a spiral
complete physical and numero exam

• guided by presentation, mebs TFTs
• symptomatic

Question 3

Give the causes for the following types of tremor:

• resting
• postural
• kinetic
• head
• Jaw
• palatal

Answer 3

-parkinson’s disease
Drug induced parkinsonism
Psychogenic tremor

-Essential tremor
Enhanced physiological tremor
assoc with neuropathy

-cerebellar disease
Wilson’s disease

-Dystonia
Cerebellar disease

-Dystonia
Parkinson’s disease

-with ataxia
symptomatic
essential

Question 4

Dystonia

• what is it? leads to what?
• how are they classified? (2-4, 5)
• what part of the brain is affected?
• what are the 3 main physiological abnormalities that have been found in patients?
• treatment?

Answer 4

-involuntary sustained muscle contraction
Leads to twisting and repetitive movement or abnormal posturing

-Either by type or distribution:

Type:
Primary
(dystonia is the only neurological disorder the patient has)
Secondary
(caused by external factors and can be attributed to a specific cause)
Dystonia-Plus
(dystonia + other symptoms of neurological disease)
e.g.DRD, myoclonic dystonia
Heredodegenerative
(W.D, P.D)

Distribution
Focal (blepharospasm, torticollis, writer's cramp)
Segmental
multifocal
Hemidystonia
Generalised 

-basal ganglia

-loss/reduction in reciprocal inhibition
Alterations in brain plasticity
Alterations in sensory function

-Botox in focal dystonia, it relaxes the contracting muscle
Deep brain stimulation (good for primary generalised)
surgery for those who ahem not responded to botox
can try physio, not much evidence

Question 5

Torsion dystonia

• causative gene & product?
• Where does it start & progression?
• penetrance?

Answer 5

• DYT1, TorsinA
• starts in climb, normally leg, over 5-10 yrs to become generalised/multifocal
• not highly, often fam Hx

-

Question 6

Chorea

• characteristics?
• causes (1.inherited/degenerative (2), 2.autoimmune (3), 3.infectious, 4.drugs, 5.paroxysmal, 6.metabolic)
• chorea Hx? (7)
• examination? (4)
• inv? (6)
• treatment? (2)

Answer 6

-patient appears restless or fidgety, often generalised

• 1.Huntington’s, Wilson’s
  2. SLE, Anti-phospholipid syndrome, Coeliac, Hashimotos thyroiditis
  3. HIV
  4. Dopmaine antagonists, levodopa
  5. parkinson’s
  6. glucose, thyroid, parathyroid, sodium

-age at onset
character of onset- acute?
drug exposure
Fam Hx
Psychiatric/behavioural disturbance
systemic symptoms

-at rest, arms outstretched, walking
not distribution of chores
Over neurological signs
Systemic signs

-guided by presentation
possibly brain imaging, blood testing acanthocytes, ds-DNA, antiphospholipid autoantibodies, copper, HD

• underlying cause
  symptomatic: terabenazine/dopamine receptor antagonists

Question 7

Huntington’s disease

• inheritance & definition?
• Clinical features
• Gene?

Answer 7

-Autosomal dominant inherited neurodegenerative disorder characterised by progressive behavioural disturbance and movement disorder, usually chorea

-age of onset normally 4th decade
Onset with psychiatric, cognitive or behavioural disturbances, neurological signs or mixed
eye movement abnormalities

-CAG triplet expansion disorder affecting the huntington gene on chromosome 4

Question 8

Tics

• how can they be classified? (3)
• Hx? (7)
• examination? (4)
• inv? (2)

Answer 8

-Motor or vocal
Motor:
Simple (one discrete movement) or complex (

Vocal:
Simple (single unarticulated sounds) or complex (stereotypes utterance of words or phrases)

Also classified as primary (idiopathic) or secondary
primary almost always start in childhood

-age at onset
what are the movements/vocalisations
precipitating factors at onset
fam Hx
associated psychopathology
additional neurological past or current symptoms
nature and extent of associated disability

-are the tics suppressible?
Motor, vocal or both?
simple, complex or both?
other near signs?

-guided by Hx, usually none
maybe copper, blood film acanthocythosis etc

Question 9

Give the 4 primary tic disorders?

Give the neurodegenerative and developmental Tic disorders? (4)

Answer 9

simple transient tics of childhood
chronic tics of childhood
Adult onset tourettism

-ND
Huntington's
Wilson's 
Neuroacanthosis
Rett's syndroms

Developmental
Down syndrome
Fragile X syndrome
Autism

Question 10

Tourette syndrome

• inheritance?
• Diagnostic criteria? (3)
• treatment? (1)

Answer 10

-autosomal dominant, no genes identified

-Both multiple motor tics and 1+ verbal tics present
tics must occur many times a day, nearly every day, intermittently for more than 1 year with no more than 3 months tic free

• age of onset <18
• symptomatic treatment (clonidine, tetrabenazine) for tics

Question 11

Myoclonus

• characteristics?
• caused by what?
• what is negative myoclonus?
• Causes for the following types of symptomatic myoclonus:
  1. with encephalopathy (6)
  2. with dementia (2)
  3. with parkinsonism (2)
  4. focal/segmental (3)
• Hx? (8)
• examination? (5)
• inv? (1)
• treatment? (1)

Answer 11

• hiccups or hyping jerks when falling asleep are common and normal
• caused by brief activation of a group of muscles leading to a jerk of the affected body part. This activation can arise from the cortex, subcortical structures, spinal cord or nerve root plexus
• produced by a temporary cessation of muscle activity e.g. liver flap
• 1. liver failure, renal failure, drug intoxication, toxins, post hypoxia, progressive encephalomyelitis
     
     2. Alzhemiers, lewy body dementia
     3. MSA, corticobasal degeneration
     4. spinal cord, root, plexus injury

-age at onset
character of onset
static or progressive
precipitating factors
alcohol response?
Drug Hx
asooc symptoms
Fam hx

-at rest, on posture, during action
distribution
amplitude, rhythmic?
stimulus sensitive
systemic signs/neuro signs 

• electrophysiological tests to characterise myoclonus
• drug combo, might cause sedation

Question 12

Juvenile myoclonus epilepsy

• what is it?
• presentation?
• EEG findings?
• treatment?

Answer 12

-onset in teenage years of myoclonic jerks and generalised seizures

-alcohol and sleep deprivation are precipitants
symptoms worse in the morning

-3-5 Hz polyspike and wave pattern

-Na valproate & levetiracetam
AED longterm