Management Team

Huntington’s disease

Overview

Huntington’s disease is an untreatable, autosomal dominant genetic movement disorder. The disease shows anticipation, meaning subsequent generations are affected at an earlier age. It usually starts at 40–50 years of age.

CAG nucleotide repeats expansion in the huntingtin gene HTT

  • Hereditary
  • Child has a 50% chance of developing if parent has it
  • If the child does not develop the disease, it will not be passed on
  • No family history identified for 1-3% of people with Huntington disease

  • Altered body postures
  • Uncontrollable dance-like movements (chorea)
  • Issues with behaviour, sentiments, and thoughts
  • Parkinsonism (associated with juvenile onset Westphal variant)
  • Psychiatric features (personality changes, aggressive behaviour)
  • Dystonia
  • Dementia
  • Progressive weight loss

Neurologist

  • Family history and clinical evaluation of symptoms
  • Genetic testing
  • MRI Brain to determine caudate head atrophy

  • Symptomatic treatment for chorea and dystonia
  • Antipsychotics for behaviour management
  • Prevention of repetitive falls due to chorea
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