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.)

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