All::Neurology::Diseases::Huntington's disease

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What is the inheritance pattern of Huntington's disease?

autosomal dominant - anticipation may be seen

Huntington's disease

What are the main clinical features of Huntington's disease?

  • chorea
  • personality changes (e.g. irritability, apathy, depression) and intellectual impairment
  • dystonia
  • saccadic eye movements

Huntington's disease

What is the pathophysiology of Huntington's disease?

  • results in degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia
  • due to defect in huntingtin gene on chromosome 4

Huntington's disease

What is Huntington's disease?

an inherited neurodegenerative condition. It is a progressive and incurable condition that typically results in death 20 years after the initial symptoms develop.

Huntington's disease

When do symptoms of Huntington's disease develop?

~35

Huntington's disease

What is the life expectancy of someone with Huntington's disease?

death 20 years after the initial symptoms develop

Huntington's disease