21st June 2023

Presentation and diagnosis

Patients with HD usually start to have symptoms at 35-44 years old. The majority of patients have a family history.

HD presents in stages, which are:

• Early stage:
  • Irritability
  • Apathy
  • Depression
  • Hallucinations
  • Abnormal eye movements
  • Anosmia
• Middle stage:
  • Dystonia
  • Chorea
  • Unsteady gait
  • Frailty
• Late stage:
  • Rigidity
  • Bradykinesia
  • Immobility
  • Aphasia
  • Dysphagia

MRI head shows atrophy of the caudate and later cerebellar and cortical atrophy. The definitive, gold standard way diagnostic test is genetic testing looking for CAG repeats.