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Flashcards in Huntington's Disease Deck (15):
1

Describe characteristics of HD as an inherited disorder

1. Single genetic disorder: mutation of a single gene
2. Autosomal dominant disorder: each child with 50% chance

2

average age of onset

40.8 years (mid-life)

3

Triad of Symptoms

1. cognitive impairments (working memory, organization, cognition, executive functioning, etc)
2. Psychiatric impairments (irritability, depression, anxiety, aggregation)
3. Movement disorder (chorea, bradkykinesia, dystonia, dyscoordination, balance, gait)

4

Neuropathology of HD

Chromosome 4 --> excessive "CAG" repeat sequence
causes destruction of medium spiny neurons in striatum --> decreased activity of indirect pathway --> lack of inhibition in thalamo-cortical activity (movement)
*length of CAG sequence = associated with age of onset
*>40 CAG = HD (normal is

5

Cell death measured on MRI

increase in ventricular space
decrease in striatal volume

6

Diagnosis of HD

related to motor impairments that are unequivically HD
made with detailed motor exam looking at eye movements, tongue movements, gait, and balance

7

Stages of HD

Stage 1 (TFC 11-13)
Stage 2 (TFC 7-10)
Stage 3 (TFC 3-10) *unable to work, need help with some ADLs
Stage 4 (TFC 1-2)
Stage 5 (TFC 0)*essentially dependent on caregiver

TFC scale: 0-13, 13 = complete functional capacity, 0=no functional capacity

8

Participation assessments in HD

SF-36
WHO-QOL

9

Activity assessments in HD

6MWT
10MRW
TUG
Barthel Indedx
ABC scale
UHDRS-TFC

10

Body Function assessments in HD

BBS
Tinetti POMA
DGI
Manual Ability Measure
Strength
UHDRS

11

Changes in barin volume

Those with diagnosis of HD have a much steeper slope of brain volume decreased over time
*brain volume decrease occurs before diagnosis

12

Chorea and voluntary movements

Chorea tapers off as time progresses (turns to rigidity)
Voluntary movements continue to increase with time

13

Gait and falls

increase in stride length variability- associated with greater incidence of falls

14

Clinical measures validated for balance impairments in HD

TUG and BBS

15

Effects of structured exercise programs on pts with HD

- improvement in motor and core function, but lasts a shorter period of time
- delayed onset of impairments/delayed clinical diagnosis