Episode 14: Huntington’s Disease

Host Jimmy McKay

Featured guest Bridget Ripa

Notes by Alexis Lancaster

What is it?

  • Inherited, an autosomal dominant trait
  • Causes degeneration to specific brain regions
  • Huntington’s disease gene is on chromosome 4 and it produces the Huntington protein that’s found throughout the body

 

Signs/Symptoms

  • Symptoms can present at any age
  • Symptoms can include physical, cognitive, and psychiatric signs & symptoms  
  • The disease is divided into 5 stages
    • Preclinical, early, middle, late, end of life

 

Anatomy/Presentation

  • Mechanism unclear
  • Hallmark sign: atrophy of striatum that later involves cerebral cortex and subcortical structures
    • Leads to severe loss of neurons in caudate and putamen
    • Also affects basal ganglia pathways, the indirect pathway is affected before direct pathway (important)

 

Differential diagnosis

  • Lupus, chorea, ataxia, generalized neurodegenerative disorder
  • R/O with genetic testing

 

Treatment

  • PT will see patients in middle/later stages (95% of pts)
  • Check medications→ should have meds for abnormal movements and psychiatric disorders
  • Specific to individual
    • Family training
    • Management of falls and decreased mobility

 

On the NPTE

  • Medications will be important (drastically changes function)
    • Know meds they may be on
      • Antipsychotics
      • Antidepressants disorder. Side effects may include nausea, diarrhea, drowsiness and low blood pressure.
      • Mood stabilizing drugs
  • Know the PT management of disease progression (family education, etc.)