Huntington's Disease and Dystonia Flashcards

(20 cards)

1
Q

what does hyperkinetic mean?

A

excessive movement

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2
Q

what does hypokinetic mean?

A

too little (paucity) movement

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3
Q

what is chorea?

A

jerky movements that are involuntary and rapid

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4
Q

what causes HD?

A

defective gene, therefore HD is inherited and is a dominant gene

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5
Q

because of the autosomal dominant inheritance pattern, what chance does a child have of inheriting HD if 1 parent is unaffected and 1 parent is?

A

50/50

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6
Q

when is the typical onset age?

A

35-55

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7
Q

what are the communication changes in HD?

A

dysarthria

language and cognitive

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8
Q

what other symptoms of HD are there?

A

dysphagia
motor control changes
mood changes
cognitive

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9
Q

what happens to speech as the disease progresses?

A
  • early on it becomes unintelligible

- often non-verbal in advanced stages

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10
Q

what are the speech difficulties a patient with HD faces?

A

impaired breathing
hoarseness
inappropriate rate
imprecise articulation

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11
Q

what are the language difficulties facing a HD patient?

A
  • limited ability to -respond within a convo
  • specific word finding difficulties
  • slow response time
  • difficulty understanding complex info
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12
Q

which gene is affected?

A

tis on chromosome 4

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13
Q

what does the huntingtin protein do to the brain?

A

causes neurones to die - the cortex and basal ganglia are particularly sensitive

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14
Q

which areas of the brain are affected with Dystonia?

A

dysfunction in basal ganglia, cerebellum, motor cortexes + sensorimotor cortexes

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15
Q

how do people get dystonia?

A

it can be inherited or acquired

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16
Q

what symptoms are associated with dystonia?

A

uncontrollable and excessive muscle spasms and contractions,

tremor

17
Q

how many dystonia sub groups are there?

A

primary (only thing)
secondary acquired (concomitant)
plus (resembles another disorder e.g. PD)

18
Q

what kind of surgery would help manage symptoms?

A

thalamotomy

pallidotomy

19
Q

what is laryngeal dystonia?

A

when the laryngeal muscles spasm

20
Q

what kind of dystonia affects lower facial muscles, tongue and jaw, and may result in swallowing difficulties?

A

oromandibular dystonia