Huntingon's disease (Huntington's chorea) Flashcards

1
Q

What is Huntington’s disease?

A

Anautosomal dominantgenetic condition that causes progressive neurological dysfunction

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2
Q

What is the usual age of onset of Huntington’s disease?

A

30-50

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3
Q

Describe the genetics of Huntington’s disease

A

Autosomal dominance with age dependant penetrance

It is caused by a trinucleotide repeat disorder, involving a CAG (Glutamine) repeat expansion mutation in the HTT gene on chromosome 4, which codes for the huntingtin (HTT) protein

The number of these repeats affects the penetrance of disease

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4
Q

What is anticipation in Huntington’s disease?

A

A feature of trinucleotide repeat disorders

This is where successive generations have more repeats in the gene, resulting in:

  • Earlier age of onset
  • Increased severity of disease
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5
Q

What is the life expectancy from onset of symptoms in Huntington’s disease?

A

10-20 years

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6
Q

What often causes death in Huntington’s disease?

A
  • Aspiration pneumonia
  • Suicide
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7
Q

Describe the pathophysiology of Huntington’s disease

A
  • Loss of cells from the basal ganglia
  • Flattening of the normal convex curve of the lateral walls if the lateral ventricles
  • Cells are lost from other areas including the cerebral cortex
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8
Q

Describe the pattern of disease in Huntington’s disease

A

Huntington’s disease presents with an insidious, progressive worsening of symptoms

It begins with cognitive, psychiatric or mood problems

It will then progress into movement disorders

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9
Q

What are some symptoms of Huntington’s disease?

A
  • Chorea
  • Dystonia
  • Rigidity
  • Eye movement disorders
  • Dysarthria
  • Dysphagia
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10
Q

What is chorea?

A

Involuntary, random, irregular body movements

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11
Q

What is dystonia?

A

Abnormal muscle tone

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12
Q

What is rigidity?

A

Increased resistance to passive joint movement

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13
Q

What is dysarthria?

A

Speech difficulties

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14
Q

Why may some people request genetic screening for Huntington’s disease prior to symptoms?

A

This may help with family planning, employment planning and may have some financial implications

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15
Q

What are the supportive management options for those with Huntington’s disease?

A
  • Genetic counselling
  • Physiotherapy
  • Speech and language therapy
  • Tetrabenazine - Used to manage chorea
  • Antidepressants
  • End-of-life care
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16
Q
A