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.)