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.)