Hyperkinetic movement disorders

Question 1

Name some examples of hyperkinetic and hypokinetic movement disorders respectively

Answer 1

Hyperkinetic - myoclonus, tremor, tics, chorea, dystonia

Hypokinetic - parkinsonism/akinetic rigid syndrome

Question 2

What is tremor?

Answer 2

Rhythmic sinusoidal oscillation of a body part. Usually due to alternate activation of agonist and antagonist muscles

Question 3

What are tics?

Answer 3

Involuntary stereotyped movements or vocalisations. Suppressible by the patient for a short period of time. Typically the patient experiences a growing feeling of anxiety and discomfort during tic suppression and when allowed to relax will respond with a flurry of tics

Question 4

What is chorea?

Answer 4

Brief irregular purposeless movements which flit and flow from one body part to another. Patient appears constantly restless. Often generalised but it may be confined to one region

Question 5

What is myoclonus?

Answer 5

Brief electric shock like jerks. Hiccups or hypnic jerks are common

Question 6

What is dystonia?

Answer 6

Involuntary muscle spasm which leads to sustained abnormal posture of the affected body part.
Typically the abnormal posture is not fixed and slow writhing movements can occur where the dominant muscle activity switches back and forth from agonist to antagonist

Question 7

What are some types of tremor?

Answer 7

Resting tremor, postural tremor, kinetic tremor, head tremor, jaw tremor, palatal tremor

Question 8

Name causes of resting tremor

Answer 8

Resting tremor - Parkinson’s disease, drug-induced parkinsonism, psychogenic tremor

Question 9

Name causes of postural tremor

Answer 9

Postural tremor - essential tremor, enhanced physiological tremor, tremor associated with neuropathy

Question 10

Name causes of kinetic tremor

Answer 10

Kinetic tremor - cerebellar disease (demyelination, haemorrhage), Wilson’s disease

Question 11

Name causes of head tremor

Answer 11

Dystonia, cerebellar disease

Question 12

Name causes of jaw tremor

Answer 12

Dystonia, Parkinson’s disease

Question 13

Name causes of palatal tremor

Answer 13

With ataxia, symptomatic, essential tremor

Question 14

How is a patient with tremor investigated?

Answer 14

History - age at onset, body part affected, precipitating factors, drug/toxin exposure, exacerbating and alleviating factors, associated systemic and neurological symptoms, family history
Examination - at rest, on posture and during movement., ask patient to write something and copy a spiral., complete physical and neurological examination
Investigations - guided by presentation, possibly thyroid function test and in young patients copper and coeruloplasmin

Question 15

How is a patient with tremor treated?

Answer 15

Usually symptomatic if at all. Deep brain stimulation in selected cases

Question 16

What are the core criteria for an essential tremor?

Answer 16

Bilateral action tremor, absence of other neurological signs, may have isolated head tremor with no signs of dystonia

Question 17

How is essential tremor treated?

Answer 17

Propanolol or primidone first line. Other treatments include; atenolol, gabapentin, sotalol, topiramate

Question 18

What is important to ask when taking a history from a patient with tics?

Answer 18

Age at onset, what are the movements/vocalisations?, precipitating factors, family history, associated psychopathology e.g. OCD, neurological history or symptoms, extent of disability associated with tics

Question 19

What is important when examining someone with tics?

Answer 19

Are the tics suppressible? Motor, vocal or both? Simple, complex or both? Other neurological signs

Question 20

How are tics investigated?

Answer 20

Guided by presentation, usually none. Possibly copper studies, blood film for acanthocytosis, ASO titre, uric acid, genetic testing for HD, brain imaging

Question 21

What are some causes of primary tic disorder?

Answer 21

Simple transient tics of childhood, chronic tics of childhood, Gilles de la Tourette’s syndrome, adult onset tourettism

Question 22

What are some causes of secondary tic disorder?

Answer 22

HD, Wilson’s disease, neuroacanthocytosis, down syndrome, fragile X syndrome, autism, post-encephalopathy, non-specific mental retardation, basal ganglia lesions (usually caudate nucleus), carbon monoxide poisoning, cocaine, amphetamines

Question 23

How is Gilles de la Tourette syndrome (TS) inherited and who does it typically affect?

Answer 23

0.5-1% of the population
Males > females (4:1)
Autosomal dominant inheritance

Question 24

What are the diagnostic criteria for TS?

Answer 24

Both multiple motor tics and one or more vocal tics must be present.
Tics must occur many times a day, nearly every day, or intermittently for >1year with no more than 3 months tic-freeness.
Age of onset<18
Exclusion of obvious secondary cause

Question 25

How is TS treated?

Answer 25

Symptomatically - clonidine, tetrabenazine for tics. CBT for associated psychopathology

Question 26

What are some broad categories of causes of chorea?

Answer 26

Inherited/degenerative disorders, autoimmune disorders, infectious disorders (HIV), drugs, paroxysmal chorea (PD) and metabolic

Question 27

What are some examples of inherited/degenerative causes of chorea?

Answer 27

HD, Wilson's disease, neuroacanthocytosis, benign hereditary chorea

Question 28

What are some examples of autoimmune causes of chorea?

Answer 28

SLE, anti-phospholipid syndrome, Bechet syndrome, coeliac disease, Hashimoto's thyroiditis

Question 29

What drugs can cause chorea?

Answer 29

Dopamine receptor blocking drugs e.g. haloperidol, levodopa, stimulants, OCP

Question 30

What are some examples of metabolic causes of chorea?

Answer 30

Chorea gravidarum, glucose, thyroid, parathyroid, sodium, magnesium metabolism

Question 31

What is important when examining a patient with chorea?

Answer 31

Examine at rest, with arms outstretched and when walking. Note distribution of chorea. Systemic signs - rash, arthopathy, Kayser-Fleischer rings, signs of thyroid disease

Question 32

How is chorea treated?

Answer 32

Treat underlying cause where possible. Symptomatically with terabenazine or dopamine receptor blocking drugs e.g. haloperidol

Question 33

What is Huntington's disease?

Answer 33

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

Question 34

What are the clinical features of HD?

Answer 34

Age of onset variable, but usually in fourth decade. Onset with psychiatric, cognitive or behavioural disturbances, neurological signs or mixed. Eye movement abnormalities

Question 35

What is the underlying genetic defect in HD?

Answer 35

CAG-triplet expansion disorder affecting the Huntington gene on chromosome 4. Number of CAG repeats determines whether disease will occur (>/=40) or not (=35). Uncertainty between 36-39

Question 36

What mechanism causes myoclonus?

Answer 36

Caused by brief activation of a muscle group leading to a jerk of the affected body part. This activation can arise from the cortex, sub-cortical structures, spinal cord or nerve root plexus

Question 37

What is negative myoclonus?

Answer 37

Produced by a temporary cessation of muscle activity. For example, asterixis (liver flap) in patients with liver failure

Question 38

What are some causes of primary myoclonus?

Answer 38

Hypnic jerks, benign infantile myoclonus with feeding/sleep, essential myoclonus, myoclonus dystonia, cortical tremor

Question 39

What are some causes of myoclonus with epilepsy?

Answer 39

Benign myoclonic epilepsy of infancy, juvenile myoclonic epilepsy, West's syndrome, early infantile myoclonic encephalopathy

Question 40

What are some causes of progressive myoclonic epilepsy and ataxis?

Answer 40

Lafora body disease, sialidosis,

Question 41

What can cause symptomatic myoclonus?

Answer 41

With encephalopathy - liver failure, renal failure, alcohol, lithium, lead, post hypoxia Without encephalopathy: Plus dementia - AD, Creutzfeldt-Jakob disease, dementia with Lewy bodies Plus Parkinsonism - multiple system atrophy, corticobasal degeneration Focal/segmental - spinal cord, root, plexus injury, palatal myoclonus

Question 42

How does juvenile myoclonic epilepsy present?

Answer 42

Onset in teenage years of myoclonic jerks and generalised seizures. Typical precipitants of the myoclonic jerks and seizures are alcohol and sleep deprivation. Symptoms tend to be worse in the mornings. EEG shows characteristic polyspike and wave pattern

Question 43

How is juvenile myoclonic epilepsy treated?

Answer 43

Sodium valproate and levetiracetam are effective; carbamazepine can aggravate the epilepsy syndrome. AED treatment is usually required long term

Question 44

How is dystonia classified by age?

Answer 44

Early onset dystonia <26 years | Late-onset dystonia >26 years

Question 45

What is primary dystonia?

Answer 45

Dystonia +/- tremor are the only symptom and sign

Question 46

What is secondary dystonia?

Answer 46

Clear secondary cause is present e.g. brain injury, drug exposure

Question 47

How do primary young onset dystonias present?

Answer 47

Onset usually late childhood/early teens. Limb onset is typical with spread of symptoms over months to 2 years. 50-60% of patients will have a mutation in the DYT1 gene on chromosome 9q

Question 48

How is young onset dystonia managed?

Answer 48

A trial of levodopa is appropriate in all patients with young onset dystonia

Question 49

Name some examples of primary adult onset FOCAL dystonias

Answer 49

``` Cervical dystonia Blepharospasm Oromandibular dystonia Spasmodic dysphonia Limb dystonia Axial dystonia ```

Question 50

What treatment plays an important role in focal dystonias?

Answer 50

Botulinum toxin