Huntington's Disease Flashcards
1
Q
define Huntington’s disease
A
AD condition with loss of cells from the basal ganglia due to an abnormally long CAG producing protein with too much glutamate that is toxic to cells
2
Q
presentation of Huntington’s
A
30-50 years rigidity, bradykinesia, chorea weight loss swallowing problems dementia severe dependency
3
Q
what is the risk with swallowing problems in Huntington’s?
A
aspiration
4
Q
diagnosis of Huntington’s disease
A
genetic testing + counselling of PCR (chromosome 4)
anticipation
5
Q
what is anticipation?
A
earlier onset due to more repeats of CAG in subsequent generations
6
Q
management of Huntington’s
A
MDT
symptom control= antipsychotics, BZDs, dopamine-depleting agents, SSRIs
