Tremor, Dystonia and Chorea

Question 1

Types of hyperkinetic movement disorders?

Answer 1

• Tremor
• Tics
• Chorea
• Myoclonus
• Dystonia

Question 2

Define tremor?

Answer 2

Rhythmic sinusoidal oscillation of a body part

Usually due to alternate activation of agonist and antagonist muscles

Question 3

Classifications of tremor?

Answer 3

Position:
• At rest
• On posture
• During movement (i.e: kinetic tremor)

Distribution - body part affected?

Frequency - measured in Hz

Amplitude:
• Fine or
• Coarse

Question 4

Types of tremor and characteristics of each?

Answer 4

Resting tremor - occurs at rest, i.e: when the patient is sitting and voluntary muscles are relaxed, and disappears when limb/body part is moved; distracting them (ask them to count backward from 100 in multiples of 7) can trigger the tremor

Postural tremor - while maintaining posture, e.g: outstretched arms; patients cannot hold objects without a tremor

Kinetic (AKA action) tremor - occurs when the limb/body part is being moved

Intention tremor - when limb is guided towards a particular body part; the tremor develops and worsens as the body part reaches its target, i.e: it is not a uniform tremor
E.g: finger-to-nose test for cerebellar disease

Head tremor - nodding or shaking of head

Jaw tremor - rare

Palatal tremor - ask patient to open their mouth and observe the palate

Question 5

History questions to ask a patient with tremor?

Answer 5

Age of onset?

Body part(s) affected?

Any precipitating factors at onset?
Drug / toxin exposure?

Exacerbating and relieving factors?

Associated neurological symptoms, e.g: may suggest a stroke?

Associated systemic symptoms, e.g: weight loss, diarrhoea, menstrual changes?

Family history

Question 6

Examination of patient with tremor?

Answer 6

Do an examination at rest, on posture and during movement

Ask the patient to write something or copy a spiral (looking for dystonia)

Complete physical and neuro exam

Question 7

Differentials for a resting tremor?

Answer 7

PARKINSON’S DISEASE is the MAIN CAUSE

Drug-induced parkinsonism

Psychogenic tremor

Question 8

Differentials for a postural tremor?

Answer 8

Essential tremor (a type of dystonia)

Enhanced physiological tremor (most people have a normal slight tremor)

Tremor assoc. with neuropathy (loss of proprioception)

Question 9

Differentials for a kinetic tremor?

Answer 9

Cerebellar disease (demyelination, haemorrhage, degenerative, toxic)

Wilson’s disease

Question 10

Differentials for a head tremor?

Answer 10

Either shaking or nodding movements

Nodding head tremor has many causes

Most common cause of a shaking head tremor is a dystonia

Question 11

Differentials for a jaw tremor?

Answer 11

Dystonia

Parkinson’s disease

Question 12

Differentials for a palatal tremor?

Answer 12

With ataxia

Symptomatic

Essential tremor

Question 13

Investigation of tremor?

Answer 13

Guided by PC

Consider TFTs

In young patients (<45 years old, check copper and coeruloplasmin (for Wilson’s disease)

Question 14

Treatment of tremor?

Answer 14

Usually symptomatic, if at all

In select cases, consider deep brain stimulation

Question 15

Define tics?

Answer 15

Involuntary sterotyped movements or vocalisations; there are very brief, e.g: blinking excessively, sniffing, brief arm movements

This is the only movement disorder that has a voluntary (and thus suppressible) component

Question 16

Classifications of tics?

Answer 16

Can be:
• Motor (movement) or vocal (sound)
• Simple (1 discrete movement) or complex
• Primary (idiopathic; almost always begin in childhood) or secondary (a cause can be found)

Question 17

Types of vocal tics?

Answer 17

Simple - single unarticulated sounds

Complex - stereotyped utterance of words/phrases

Question 18

Other features of tics?

Answer 18

Copropraxia - production of obscene gestures

Echopraxia - copying movements of others

Coprolalia - use of obscene words

Echolalia - copying words of others

Palilalia - repetition of the same phrase, word or syllable

Question 19

What does an adult onset of tics suggest?

Answer 19

Rare and almost always has a secondary cause

Question 20

History questions with potential tics patient?

Answer 20

Age at onset

What are the movements and/or vocalizations that the patient has noticed?

Precipitating factors at onset (drugs, brain injury, infection)?

Family history of tics or any other neurological disease

Is there ASSOCIATED PSYCHOPATHOLOGY (obsessive-compulsive disorder, ADHD, anxiety, self-harm?)

Are there any additional neurological past or current symptoms?

What is the nature and extend of any disability associated with the symptoms?

Question 21

Examination of a patient with tics?

Answer 21

Are the tics suppressible? - ask them to sit still and make no movements; if they are capable of doing this, it is suggestive of tics

Motor tics, vocal tics or both?

Simple tics, complex tics or both?

Other neurological signs?

Question 22

Investigations in tics patients?

Answer 22

Usually none but, if their are, guided by the Hx and PC

Possibly:
• Cu studies
• Blood firm for acanthocythosis
• ASO titre
• Uric acid
• Genetic testing for Huntington's disease
• Brain imaging

Question 23

Differentials of primary tic disorders?

Answer 23

Simple transient tics of childhood - common and usually temporary

Chronic tics of childhood - more common than Tourette’s syndrome; present in childhood and often improve in adulthood

Gilles de la Tourette’s syndrome

Adult-onset Tourettism

Question 24

Differentials of secondary tic disorders?

Answer 24

Neurodegenerative disorders:
• Huntington's disease
• Wilson's disease
• Neuroacanthocythosis
• Neuronal brain iron accumulation syndrome
• Rett's syndrome
• Lesch-Nyhan syndrome 

Developmental syndrome:
• Down syndrome and other chromosomal abnormalities
• Fragile X syndrome
• Autism
• Non-specific mental retardation

Structural abnormalities:
• Post-encephalopathy
• Basal ganglia lesions (usually caudate nucleus)

Infection:
• Sydenham’s chorea
• PANDAS

Drugs and toxins:
• CO poisoning
• Cocaine, amphetamines
• Anti-convulsants

Question 25

What is Tourette syndrome?

Answer 25

A cause of primary tics, usually in those <18 years of age and more often in males There is sometimes autosomal dominant within families

Question 26

Diagnostic criteria for Tourette syndrome?

Answer 26

Multiple motor tics and one/more vocal tics must be present Tics must occur many times a day, nearly every day OR intermittently for >1 year (no longer than 3 months without tics) Age of onset <18 years Exclusion of obvious secondary causes

Question 27

Treatment of Tourette syndrome?

Answer 27

Symptomatic: • Clonidine • Tetrabenazine Association treatment of psychopathology with CBT

Question 28

Define dystonia?

Answer 28

Movement disorder where there is involuntary, sustained muscle contraction

Question 29

Signs of dystonia?

Answer 29

* Twisting * Repetitive movements * Abnormal posturing of the affected body part

Question 30

Classification of dystonias by type?

Answer 30

Primary - no identifiable cause Secondary - attributed to a specific cause Dystonia plus - dystonia occurs along with symptoms of other neurological disorders or has a particular quality that resembles another disorder, e.g: • Myoclonus dystonia • Dopa-responsive dystonia (DRD) Heredodegenerative: • Wilson's disease • Parkinson's disease

Question 31

Classifications of dystonia by distribution?

Answer 31

Focal - only one body part is affected, e.g: eyes, neck, limb Segmental - larger region is affected, e.g: neck and arms Multifocal - 2 or more unrelated parts of the body are affected Hemidystonia - arm and leg on one side of the body are affected Generalised - widespread

Question 32

Classifications of dystonia by age of onset?

Answer 32

Youth <28 years Adult >28 years

Question 33

Which brain regions are affected in dystonia?

Answer 33

Basal ganglia

Question 34

3 main physiological abnormalities found in patients with brain changes indicated dystonia?

Answer 34

Loss/reduction in reciprocal inhibition Alterations in brain plasticity Alterations in sensory function

Question 35

Genetic causes of dystonia?

Answer 35

There are many; these are often autosomal dominant If a child has dystonia, consider a genetic component

Question 36

What is torsion dystonia?

Answer 36

AKA Oppenheim's disease or dystonia musculorum deformans; due to loss of TorsinA (gene product) Typically, there is normal birth and development with onset before the age of 28 years, usually in childhood Often, there is a +ve FH (autosomal dominant) but the gene does not have a high penetrance

Question 37

Progression of torsion dystonia?

Answer 37

Starts in a limb, typically the legs; trunk/neck and rarely affected and the head/face is even more rare Most patients progress over 5-10 years and develop generalised/multifocal dystonia

Question 38

Signs of dystonia?

Answer 38

Writer's cramp Torticollis

Question 39

Use of botulinum toxin in the treatment of dystonia?

Answer 39

Helpful for focal dystonias, esp. for cervical dystonia, but not as useful for generalised dystonia Good for treatment of writer's cramp

Question 40

Treatment of generalised dystonia?

Answer 40

Brain lesioning (historic) Deep brain stimulation (procedure of choice) - it is useful for primary generalised dystonia

Question 41

Risks associated with deep brain stimulation?

Answer 41

Infection

Question 42

Treatment of cervical dystonia, other than with botulinum toxin?

Answer 42

Surgery for patients who have not responded to botox

Question 43

Define chorea?

Answer 43

Brief irregular purposeless movements which flit/flow from one body part to another (writhing movements); often generalised but may be confined to one region, e.g: the face Patients appear constantly restless/fidgety

Question 44

How to distinguish between chorea and myoclonus or tics?

Answer 44

Difficult but: • Myoclonus movements tend to short and do not fly around • Tics are suppressible

Question 45

Differentials for chorea?

Answer 45

``` Inherited/degenerative disorders: • HUNTINGTON'S DISEASE and HD-like syndromes • Wilson's disease • Neuroacanthocythosis • Benign hereditary chorea • Ataxia telangiectasia • Spinocerebellar ataxis ``` ``` Autoimmune (inc. post-infectious): • SLE (more common in women) • Anti-phospholipid syndrome • Bachet syndrome • Coeliac disease • Sydenham's chorea • Hashimoto's thyroiditis ``` Infectious: • HIV ``` Drugs: • Dopamine-receptor blocking drugs • Levodopa • Sitmulants • Oral contraceptive pill • Anti-convulsants ``` Paroxysmal chorea: • PARKINSON'S DISEASE ``` Metabolic: • Chorea gravidarum (following pregnancy) • Glucose • Thyroid or parathyroid • Na+, Mg2+ metabolism ```

Question 46

History questions to ask a chorea patient?

Answer 46

Age at onset? Character of onset – acute or gradual? Drug exposure? FAMILY HISTORY? Psychiatric / behavioural disturbances? Systemic symptoms (recurrent miscarriage, migraine, thrombosis)?

Question 47

Examination of a chorea patient?

Answer 47

Examine at rest, with arms outstretched and while walking Distribution of chorea Other neurological signs Systemic signs: • Rash, arthropathy • Keyser-Fleischer rings • Signs of thyroid disease

Question 48

Ix in chorea patients?

Answer 48

``` Guided by PC; consider: • Brain imaging • Blood testing for acanthocytes • ds-DNA antibodies • Anti-phospholipid auto-antibodies • Cu • Genetic testing for HD ```

Question 49

Treatment of chorea?

Answer 49

Treat underlying cause Symptomatic treatment is usually with: • Terabenazine OR • Dopamine receptor blocking drugs

Question 50

What is Huntington's disease?

Answer 50

Autosomal dominant inherited neurodegenerative disorder

Question 51

Symptoms and signs of Huntington's disease?

Answer 51

Progressive behavioural disturbance Dementia Movement disorder, usually CHOREA May have eye movement abnormalities

Question 52

Onset of HD?

Answer 52

Age of onset is variable (typically in FOURTH DECADE) ``` Onset is often with: • Psychiatric disturbance • Cognitive disturbance • Behavioural disturbance • Neurological signs • Mixed ```

Question 53

Underlying genetic cause of HD?

Answer 53

CAG triplet-repeat expansion disorder Physiological function of the Huntington protein is unknown but the mutated protein tends to aggregate in cells No. of CAG repeats determines whether disease will occur: • ≥40 indicates HD • ≤35 means HD will not occur • 36-39 makes it uncertain

Question 54

Definition of myoclonus?

Answer 54

Brief electric shock like jerks, caused by brief activation of a group of muscles; this activation may arise from the CORTEX, subcortical structures, spinal cord or nerve root and plexus NOT FROM THE BASAL GANGLIA Hiccups or hypnic jerks (when falling asleep) are common and normal forms of myoclonus.

Question 55

What is negative myoclonus?

Answer 55

E.g: CO2 flap or liver flap (asterixis) There is temporary cessation of muscle activity

Question 56

Causes of myoclonus?

Answer 56

Primary myoclonus Myoclonus with epilepsy Progressive myoclonus with epilepsy and ataxia

Question 57

Classes of symptomatic myoclonus and causes of each?

Answer 57

``` With encephalopathy: • Liver or renal failure • Drug intoxication • Toxins • Post-hypoxia • Progressive encephalomyelitis with rigidity ``` Without encephalopathy: • Plus dementia - Alzheimer's, Lewy body dementia, Creutzfeldt-Jakob disease • Plus Parkinsonism - corticobasal degeneration, multiple system atrophy, spinocerebellar ataxias • Focal/segmental - spinal cord, root, plexus injury, palatal myoclonus • Other - Whipple disease, Coeliac disease, paraneoplastic, drugs

Question 58

History questions for a myoclonus patient?

Answer 58

Age at onset? Character of onset? Static or progressive? Precipitating factors at onset (hypoxia, encephalitis, drug use, metabolic disorder, peripheral injury)? Alcohol responsiveness? Take thorough drug history Associated symptoms – in particular epilepsy, ataxia, cognitive decline Family history

Question 59

Examination of a myoclonus patient?

Answer 59

Look for myoclonus at rest, on posture and during action Note distribution (generalised, segmental, focal) Amplitude? Rhythmic? Stimulus sensitive? Systemic signs? Other neurological signs , particularly cerebellar?

Question 60

Ix for a myoclonus patient?

Answer 60

Guided by PC To characterise myoclonus, electrophysiological tests

Question 61

Treatment of myoclonus?

Answer 61

Usually symptomatic with a combo of drugs (often, the side effects inc. sedation)

Question 62

What is Juvenile Myoclonus Epilepsy?

Answer 62

Onset in teenage years of myoclonic jerks and generalized seizures Typical precipitants of the myoclonic jerks and seizures are alcohol and sleep deprivation; symptoms tend to be worse in the mornings

Question 63

Ix for Juvenile Myoclonus Epilepsy?

Answer 63

EEG shows characteristic 3-5 Hz polyspike and wave pattern

Question 64

Treatment of Juvenile Myoclonus Epilepsy?

Answer 64

Sodium valproate Levetiracetam Both are effective and usually treatment with AEDs is long-term NOTE - carbamezapine can aggravate the epilepsy syndrome