Huntington's Disease And Dystonia

Question 1

What does it mean if something is hyperkinetic?

Answer 1

Too much/ excessive movement

Question 2

What does it mean id something is hypokinetic?

Answer 2

Too little/paucity of movement

Question 3

Where did the term huntingtons disease come from?

Answer 3

• Dr George Huntington (1872) wrote a paper called ‘On Chorea’ – the inherited disorder he described became known as ‘Huntington’s Chorea’
• ‘Chorea’ comes from Greek meaning ‘group of dances’. Describes involuntary and rapid movements which can look like ‘jerky dancing’.
• Whilst chorea is a core symptom of Huntington’s Disease, it is far from the only symptom.

Question 4

What are other causes off chorea?

Answer 4

• Sydenham’s chorea occurs as a complication of streptococcal infection
• Drugs (e.g. some antipsychotic, anticonvulsants, and oral contraceptives)

Question 5

How is Huntington disease caused?

Answer 5

Caused by a defective gene - if an individual has the gene, they will ultimately develop Huntington’s Disease.

Question 6

Can huntingtons disease be inherited?

Answer 6

Inherited, autosomal dominant – child has 50/50 chance of inheriting

Question 7

Is huntingtons disease progressive and is there a cue?

Answer 7

Yes and no

Question 8

How long can the progression of huntingtons disease take?

Answer 8

10-25 years but can vary

Question 9

What age does the onset typically begin?

Answer 9

35-55

Question 10

Way age is juvenile huntingtons?

Answer 10

Before 20

Question 11

What are the symptoms of Huntington’s Disease?

Answer 11

Communication changes
–Dysarthria
–Language and cognitive

Dysphagia
Motor control changes
Behavioural and mood changes
Cognitive changes

Question 12

When do speech production disturbances begin?

Answer 12

Early on in the disease process

Question 13

What happens to speech as the disease progresses?

Answer 13

speech often becomes unintelligible and individuals are often non-verbal in the advanced stages of the disease.

Question 14

What speech and language difficulties occur?

Answer 14

impaired breathing for speech production; hoarse, harsh, strained or strangled vocal quality; inappropriate rate, rhythm and pitch of speech; imprecise articulation.

Question 15

Give further detail on the cause of HD?

Answer 15

• 46 chromosomes (23 pairs)
• Faulty gene that causes HD is on chromosome 4
• Gene produces a protein called Huntingtin
• Faulty gene results in a mutant form of Huntingtin
• Neurons in certain parts of the brain (particularly parts of the cortex, and the basal ganglia) are extremely sensitive to the effects of Huntingtin
• The mutated Huntingtin protein causes neurones to die.

Question 16

What is the diagnosis of HD?

Answer 16

Clinical symptoms
Family history
Confirmation through genetic testing
MRI brain scan may also be carried out

Question 17

What is the rating scale developed to assess?

Answer 17

•Developed to assess four domains of clinical performance:
–Motor
–Cognitive
–Behavioural
–Functional

Question 18

What is medical management for chorea?

Answer 18

–Anti-psychotic medication – side effect is the suppression of involuntary movements
–Drugs which reduce the amount of dopamine reaching cells may also be used

• Antipsychotic drugs
• Antidepressants

Question 19

What is dystonia?

Answer 19

Dysfunction in basal ganglia, cerebellum, supplementary motor areas and sensorimotor cortex

Question 20

What are the two causes of dystonia?

Answer 20

acquired and inherited

Question 21

Is Dystonia progressive or non-progressive?

Answer 21

Can be both

Question 22

What are the symptoms of dystonia?

Answer 22

•Motor disorder

•Characterised by uncontrollable, excessive muscle spasms and contractions
–Can present as twisting motions and awkward, unusual postures

•Tremor can also present with some types of dystonia

Question 23

What is the diagnosis of dystonia?

Answer 23

•Typically not straightforward

•To determine appropriate treatment, important to establish nature of dystonia
–Primary or Secondary

•Depending on individuals signs and symptoms, a number of tests may be required to confirm diagnosis. These could include:
–MRI scan (checking for brain damage, or tumour)

Question 24

What are the 3 subgroups of dystonia?

Answer 24

Primary
Secondary/acquired
Plus

Question 25

What is primary dystonia?

Answer 25

• Only neurological disorder a person has (dystonia can’t be attributed to another neurological condition)
• Cause is often unclear/unknown, but some genetic forms identified

Question 26

What is secondary dystonia?

Answer 26

• Results from outside factors

* This could be another neurological condition, trauma, medication

Question 27

What is dystonia plus?

Answer 27

Dystonia appears alongside symptoms from other neurological conditions, resembling another disorder.

Question 28

What are the four types of dystonia?

Answer 28

Focal
Segmental
Multifocal
Generealsied

Question 29

What is focal dystonia?

Answer 29

–Affecting a single region of the body
–Can be task specific (only occur when person is preforming a particular task) – e.g. writer’s cramp, or musicians dystonia

Question 30

What is segmental dystonia?

Answer 30

–Affecting two or more connected regions

Question 31

What is multifocal dystonia?

Answer 31

–Affecting two or more unconnected regions

Question 32

What are types of medical and surgical management?

Answer 32

Medication:
–Anticholinergics
–Muscle relaxants
–Baclofen

Botulinum Toxin
–Injected into the affected area to reduce spasms (temporarily weakens muscles)

Surgery
–Pallidotomy and Thalamotomy
–DBS (mechanism not understood)