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Neurology Yr2 > Huntington's Disease and Dystonia > Flashcards

Huntington's Disease and Dystonia Flashcards

1
Q

Define Hyperkinetic.

A

Too much/ excessive movement.

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2
Q

Define Hypokinetic.

A

Too little/paucity of movement.

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3
Q

Is hungtington’s disease Hyperkinetic or Hypokinetic?

A

Hyperkinetic.

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4
Q

Is parkinson’s disease Hyperkinetic or Hypokinetics?

A

Hypokinetic.

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5
Q

________ comes from the greek meaning group of dances.

A

Chorea.

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6
Q

What is chorea?

A

Involuntary and rapid movements which can look like Jerky dancing.

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7
Q

What is a core symptom of Huntigton’s Disease?

A

Chorea.

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8
Q

What are some other causes of chorea (apart from HD)?

A
  • Sydenham’s chorea- as a complication of streptococcal infection
  • Drugs (antipsychotics, oral contraceptives)
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9
Q

Huntington’s Disease is a ________ condition.

A

Neurological.

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10
Q

Mumbling, becoming clumsier and more stressed are all symptoms of…

A

Huntington’s Disease.

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11
Q

What is Huntington’s disease caused by?

A

A defective gene.

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12
Q

If an individual has the ________, they will ultimately develop huntington’s disease.

A

Defective Gene

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13
Q

Huntington’s Disease is mainly _____.

A

Inherited.

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14
Q

The defective gene is autosomal dominant, what does this mean?

A

If 1 parent has Huntington’s Disease, they have a 50/50 chance of inheriting it.

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15
Q

In rare cases there is no _____ ________ of the condition.

A

Family History.

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16
Q

Huntington’s Disease is _______, there is no cure.

A

Progressive.

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17
Q

It has a prevalence of 5.7 per 100,000 people in Europe, N. America and Australia, so is quite _____.

A

Rare.

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18
Q

Huntington’s Disease has a wide spectrum of _______ which can vary between individuals.

A

Symptoms.

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19
Q

What is the typical progression of HD?

A

10-25 years but can vary.

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20
Q

When does progression of HD tend to be faster?

A

In Juvenile Huntington’s Disease.

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21
Q

Both ____ and _____ can be affected, they have an _____ chance of _______ the ______.

A

Men and Women
Equal
Inheriting , gene

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22
Q

Onset can be at any age,but when is the typical onset of HD?

A

Between ages 35-55.

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23
Q

The onset of HD before age 20 is known as…

A

Juvenile Huntington’s Disease.

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24
Q

What are the main symptoms of HD?

A
  • Communication changes eg.dysarthria, language and cognitive ability.
  • Dysphagia
  • Motor control changes- jerky, choreic movements.
  • Behavioural and Mood changes- depression/anger
  • cognitive changes.
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25
Q

__________________ begin early on in the HD process.

A

Speech production disturbances.

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26
Q

What happens to speech as HD progresses?

A

Speech often becomes unintelligible

Individuals are often non-verbal in the advanced (later) stages of the disease.

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27
Q

Name some specific speech and language difficulties somebody with HD may have.

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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28
Q

As well as the actual production of speech, what other area is also greatly affected by HD?

A

Cognitive and language skills.

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29
Q

Name some cognitive and language deficits people with HD can present with.

A
  • Difficulty beginning conversation
  • Lack of spontaneity in communication
  • Difficulty putting thoughts into words
  • Reduced number of words available to the person
  • Limited ability to respond within conversation
  • Specific word finding difficulties
  • Difficulty understanding complex information
  • Slow Response Time.
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30
Q

Why are abilities often unpredictable in HD?

A

Because deficits occur randomly during the general progression of the disease.

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31
Q

How many chromosomes do we have?

A

46 chromosomes (23 pairs)

32
Q

On what chromosome is the faulty gene that causes HD?

A

Chromosome 4.

33
Q

What does the normal gene on chromosome 4 do?

A

It produces a protein called Huntingtin.

34
Q

What does the faulty gene on chromosome 4 produce?

A

It produces a mutant form of huntingtin.

35
Q

What are extremely sensitive to the effects of hungtingtin?

A

Neurons in certain parts of the brain, especially parts of the cortex and the basal ganglia.

36
Q

What does the mutated Huntingtin protein cause?

A

It causes neurons to die.

37
Q

When diagnosing HD, what is often the problem with clinical symptoms?

A

The symptoms may represent other conditions eg. PD, MS early on.

38
Q

What is used to diagnose HD, which can’t really be done for other conditions?

A
  • Confirmation through genetic testing

- Family History

39
Q

A __________ brain scan may also be carried out to diagnose huntington’s disease.

A

MRI

40
Q

What is the rating scale commonly used for HD?

A

the Unified Huntington’s Disease Rating Scale.

41
Q

Name the 4 domains of clinical performance that the Unified Huntington’s Disease Rating Scale assesses.

A

Motor
Cognitive
Behavioral
Functional

42
Q

How is HD medically managed?

A
  • Anti-psychotic medicaton/drugs to reduce amount of dopamine are used to reduce chorea
  • Antidepressants (help depression)
43
Q

Apart from medical management, how else is HD managed?

A

By Therapeutic Management.

44
Q

Name the members of the multi disciplinary team involved with HD.

A

SLT
OT
Physiotherapy
Psychotherapy.

45
Q

What is often difficult when working with HD?

A
  • They can just flip and become really agitated/agressive etc.
  • They can become quite forgetful- finding retrieval particularly difficult e.g. word finding and forming new memories
46
Q

Dystonia is dysfunction in…

A

the basal ganglia, cerebellum, supplementary motor areas and sensorimotor cortex.

47
Q

What are the causes of dystonia?

A

There are many causes, it can be acquired or inherited.

48
Q

Wjat is the onset of dystonia?

A

Any age.

49
Q

Dystonia can be ______ or ____________________.

A

Isolated, combined with another movement disorder.

50
Q

Is dystonia progressive or non-progressive?

A

Dystonia can be progressive or non-progressive.

51
Q

What is dystonia?

A

A motor disorder characterised by uncontrollable, excessive muscle spasms and contractions.

52
Q

How can dystonia present?

A

It can present as twisting motions and awkward, unusual postures (really hunched all the way over).

53
Q

What makes dystonia movement symptoms different from HD movement symptoms?

A

HD- movements more twicth like, jerky

Dystonia- twisted motions and awkward postiures aka. not as jerky, last longer

54
Q

What can also be present with some types of dystonia?

A

Tremor.

55
Q

Involuntary muscle spasms can be ______ or ____________.

A

Intermittent, sustained.

56
Q

Diagnosis of dystonia is typically not _______.

A

Straightforward,

57
Q

To determine appropriate treatment of dystonia, what is it important to establish?

A

It is important to establish the nature of dystonia. (primary or secondary)

58
Q

Depending on individuals signs and symptoms, a number of tests may be required to confirm diagnosis. What could these include?

A
  • MRI Scan (rule out brain damage or tumour)
  • Genetic Test
  • Urine and Blood tests.
59
Q

Name the 3 subgroups of dystonia.

A
  • Primary Dystonia
  • Secondary/Acquired Dystonia
  • Dystonia plus
60
Q

What is primary dystonia?

A

When dystonia is the only neurological disorder the person has.
Cause is often unknown, but some genetic forms have been identified.

61
Q

What is secondary/acquired dystonia?

A

-Dystonia that results from outside factors eg. another neurological condition like PD, trauma, medication etc.

62
Q

Define dystonia plus.

A

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

63
Q

Give and explain an example of dystonia plus.

A

Dopa-responsive dystonia

Symptoms resemble PD but individual doesn’t have progressive parkinson’s disease.

64
Q

Name the 5 types of dystonia.

A 
Focal
Segmental
Multifocal
Generalised
Hemidystonia.
65
Q

What is the most common type of dystonia?

A

Focal.

66
Q

What does focal dystonia affect?

A
  • It affects a single region of the body

- Can be task specific e.g. writers cramp.

67
Q

What type of dystonia affects two or more connected regions? e.g. hip, leg, foot.

A

Segmental dystonia.

68
Q

What type of dystonia affects two or more unconnected regions? e.g. hip, arm

A

Multifocal Dystonia.

69
Q

What type of dystonia can be quite disabling and why?

A

Generalised Dystonia.

It affects the trunk and at least two other parts of the body.

70
Q

What does Hemidystonia affect?

A

It affects one side of the body entirely (eg. whole left side).

71
Q

Name some medication to help manage dystonia.

A

Anticholinergics
Muscle Relaxantsa
Balcofen

72
Q

Apart from drugs and surgery what else can help manage dystonia and why?

A

Botox (Botulinum Tocxin)

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

73
Q

What surgery is performed to manage dystonia?

A

Pallidotomy (removing globus pallidus) -RISKY
Thalamotomy (removing thalamus) - RISKY
DBS (deep Brain stimulation)- helps but not sure why :)

74
Q

_________ can feature secondary to other neurological conditions.

A

Dystonia.

75
Q

What causes problems with swallowing?

A

Laryngeal Dystonia- causes the laryngeal muscles to spasm.

76
Q

Apart from laryngeal dystonis, what other dystonia are SLT involved in?

A

Oromandibular dystonia

77
Q

What does oromandibular dystonia affect?

A

It affects the lower facial muscles, tongue or jaw.

may result in motor control difficulties as well as swallowing difficulties.

Neurology Yr2 (9 decks)

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