Huntington's Disease And Dystonia Flashcards

(32 cards)

1
Q

What does it mean if something is hyperkinetic?

A

Too much/ excessive movement

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2
Q

What does it mean id something is hypokinetic?

A

Too little/paucity of movement

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3
Q

Where did the term huntingtons disease come from?

A
  • 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.
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4
Q

What are other causes off chorea?

A
  • Sydenham’s chorea occurs as a complication of streptococcal infection
  • Drugs (e.g. some antipsychotic, anticonvulsants, and oral contraceptives)
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5
Q

How is Huntington disease caused?

A

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

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6
Q

Can huntingtons disease be inherited?

A

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

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7
Q

Is huntingtons disease progressive and is there a cue?

A

Yes and no

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8
Q

How long can the progression of huntingtons disease take?

A

10-25 years but can vary

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9
Q

What age does the onset typically begin?

A

35-55

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10
Q

Way age is juvenile huntingtons?

A

Before 20

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11
Q

What are the symptoms of Huntington’s Disease?

A

Communication changes
–Dysarthria
–Language and cognitive

Dysphagia
Motor control changes
Behavioural and mood changes
Cognitive changes

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12
Q

When do speech production disturbances begin?

A

Early on in the disease process

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13
Q

What happens to speech as the disease progresses?

A

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

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14
Q

What speech and language difficulties occur?

A

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

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15
Q

Give further detail on the cause of HD?

A
  • 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.
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16
Q

What is the diagnosis of HD?

A

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

17
Q

What is the rating scale developed to assess?

A
•Developed to assess four domains of clinical performance:
–Motor
–Cognitive
–Behavioural
–Functional
18
Q

What is medical management for chorea?

A

–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
19
Q

What is dystonia?

A

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

20
Q

What are the two causes of dystonia?

A

acquired and inherited

21
Q

Is Dystonia progressive or non-progressive?

22
Q

What are the symptoms of dystonia?

A

•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

23
Q

What is the diagnosis of dystonia?

A

•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)

24
Q

What are the 3 subgroups of dystonia?

A

Primary
Secondary/acquired
Plus

25
What is primary dystonia?
* 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
26
What is secondary dystonia?
* Results from outside factors | * This could be another neurological condition, trauma, medication
27
What is dystonia plus?
Dystonia appears alongside symptoms from other neurological conditions, resembling another disorder.
28
What are the four types of dystonia?
Focal Segmental Multifocal Generealsied
29
What is focal dystonia?
–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
30
What is segmental dystonia?
–Affecting two or more connected regions
31
What is multifocal dystonia?
–Affecting two or more unconnected regions
32
What are types of medical and surgical management?
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)