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.)