Movement Disorders: Dyskinesias

Question 1

How can you catagorise dyskinesias?

Answer 1

Tremor
Dystonia
Chorea
Myclonus
Tics

Question 2

What is a tremor?

Answer 2

Rhythmic sinusoidal oscilations of a body part.

May be most prominant at rest (resting tremor), with limbs outstretched (postural tremor) or on movement (intention tremor) depending on the underlying cause.

Question 3

What is dystonia?

Answer 3

Involuntary, sustained muscle contraction, causes twisting movement or abnormal postures.

Question 4

What is chorea?

Answer 4

Continuous, irregular, jerky or fidgety movements that move from one part of the body to another in an unpredictable fashion.

Question 5

What is myoclonus?

Answer 5

Brief, shock-like jerks.

Question 6

What are tics?

Answer 6

Brief, repetitive stereotyped behaviours that can be transiently controlled by the patient, although doing so causes a build up of inner tension until the tic is allowed to occur.

Question 7

How is an essential tremor characterized?

Answer 7

Characterised by tremor on holding the arms outstretched or on maintaining certain postures (postural tremour).
Tremor minimal at rest and is not associated with any other neurological dysfunction.

Underlying cause is unknown although family history is present in 50%.

Question 8

How would an essential tremor present?

Answer 8

Upper limb tremor provoked by certain activities such as holding or pouring drinks.
Tremor usually bilateral and may also affect the head (titubation).

May be localised, generalised, constant or intermittent.

Exacerbated by anxiety and patients may notice an improvement after small amounts of alcohol.

Question 9

How would you treat a patient with an essential tremor?

Answer 9

Treatment often unnecessary.

In individuals with disabling tremor beta blockers and primidone may be helpful.

Question 10

What is Huntington’s disease?

Answer 10

Progressive neurodegenerative disease inherited in an autosomal dominant fashion.

Question 11

How might patients with Huntington’s disease present?

Answer 11

Affected individuals typically present between 30 and 50 years of age with personality change (irritability, aggression and loss of interest) and chorea.

Chorea may be subtle at onset and patients may simply appear fidgety.

Question 12

How does Huntington’s progress?

Answer 12

Chorea becomes more florid and dementia becomes more severe.

Death occurs 10-20 years after symptom onset.

Question 13

What tests would you perform if you suspected Huntington’s disease?

Answer 13

Genetic testing can diagnose Huntington’s disease in symptomatic individuals and can identify whether unaffected individuals carry the gene.

Further investigations are required in individuals with no family history and in whom genetic testing is negative.

Question 14

How would you manage Huntington’s disease?

Answer 14

No treatment for Huntington’s disease.

In view of its devastating nature testing raises difficult issues for families. Genetic counselling is vital.

Question 15

What is Wilson’s disease?

Answer 15

A rare autosomal recessive disorder of copper metabolism.

Question 16

What is the pathogenesis behind Wilson’s disease?

Answer 16

Results from the accumulation of copper in the liver, brain (particularly basal ganglia) and other organs.

Question 17

How do individuals with Wilson’s disease present?

Answer 17

Impaired liver function and neurological features, eg:
dystonia
Parkinsonism
Tremor
Neuropsychiatric disturbance

Question 18

What would be found on examination and investigation of an individual with Wilson’s disease?

Answer 18

Kayser-Fleischer rings (copper deposits around the cornea) are seen on eye examination.

Investgations show:

• Low serum caeruloplasmin
• elevated urinary copper

Elevated hepatic copper concentration on liver biopsy confirms diagnosis.

Question 19

How would you treat Wilson’s disease?

Answer 19

Treatment is with chelating agents such as penicillamine.

Question 20

What is Sydenham’s chorea?

Answer 20

Unilateral, postinfective chorea that affects children or adolescents.

Question 21

Describe the pathogenesis and progression of Sydenham’s chorea.

Answer 21

Onset is usually within several weeks of a group A streptococcal infection.

Settles spontaneously over weeks to months.

Question 22

What is Gilles de la Tourette’s Syndrome?

Answer 22

Comprises multiple motor and vocal tics such as grunting, barking or uttering oscenities.

Often associated with behavioral disturbance, particularly obsessive-compulsive disorder or attention-deficit hyperactivity disorder.

Question 23

What would be found after examination and testing on a patient with Gilles de la Tourette’s syndrome?

Answer 23

Nothing, diagnostic tests and examination are normal.

Question 24

How would you manage a patient with Gilles de la Tourette’s syndrome?

Answer 24

Clondine or haloperidol may provide some symptomatic benefit.