Please confirm topic selection

Are you sure you want to trigger topic in your Anconeus AI algorithm?

Please confirm action

You are done for today with this topic.

Would you like to start learning session with this topic items scheduled for future?

Updated: May 5 2022

Huntington Disease

  • Snapshot
    • A 20-year-old man presents with a two-year history of motor restlessness that has progressed to uncontrollable choreiform movements. He has moderate dementia with a severe gait disturbance as well as agitation and problems with his mood. CT scan of the brain shows atrophy of the cerebral cortex and caudate nucleus.
  • Introduction
    • An autosomal dominant disorder characterized by
      • choreiform movements
      • progressive intellectual deterioration
      • exhibits genetic anticipation
    • Epidemiology
      • demographics
        • symptoms usually begin to appear in the 3rd-5th decade of life
        • both sexes are affected equally
      • incidence
        • 0.38 cases per 100,000 per year
    • Genetic
      • inheritance
        • autosomal dominant
      • mutation
        • CAG triplet repeat expansion in huntingtin gene (chromosome 4)
          • HUNT 4 an animal, put it in a CAGe
        • demonstrates anticipation
        • mutation leads to atrophy of striatum (especially caudate nucleus) with neuronal loss and gliosis
        • decrease in the levels of GABA and ACh
    • Pathophysiology
      • changes in neurotransmitters with Huntington's disease
        • ↑ dopamine (in ventral tegmentum and substantia nigra) and ↓ GABA (in nucleus accumbens) and ACh (in basal nucleus of Meynert)
          • high dopamine can act on the nigro-striatal pathway to result in hyperkinesis
          • high dopamine can act on the meso-limbic pathway to result in psychotic symptoms
  • Presentation
    • Symptoms
      • progressive choreiform movements of all limbs
      • ataxic gait
      • dementia
      • depression
      • grimacing
  • Evaluation
    • MRI
      • shows atrophy of caudate
  • Treatment
    • Pharmacologic
      • no known cure
      • medications used to treat Huntington's disease include
        • amine-depleting agents (inhibit VMAT, involved in monoamine transport)
          • reserpine
            • ↓ release of amines (dopamine)
          • tetrabenazine
            • ↑ degradation of amines (dopamine)
        • antipsychotics
          • haloperidol
            • dopamine receptor antagonist
            • ↓ effect of excess dopamine resulting in psychotic symptoms
            • antipsychotics
        • muscle relaxants
          • benzodiazepines
  • Prognosis, Prevention, and Complications
    • Death inevitable
    • Suicide common cause of death
1 of 0
1 of 5
Private Note

Attach Treatment Poll
Treatment poll is required to gain more useful feedback from members.
Please enter Question Text
Please enter at least 2 unique options
Please enter at least 2 unique options
Please enter at least 2 unique options