Huntington's Disease

Question 1

What is Huntington’s disease?

Answer 1

A progressive hereditary disorder (autosomal dominant) characterized
by movement abnormalities, personality disturbances and dementia

Question 2

What movement is characteristic of HD?

Answer 2

Choreic movement

Brief, purposeless, involuntary and random
movement

Question 3

What is the biggest risk factor of HD?

Answer 3

Almost always a history of a parent with the disease,

and a 50% risk in each child of an affected adult

Question 4

True or False; All persons who inherit the HD gene will develop symptoms of the disease.

Answer 4

TRUE

Question 5

Atrophy of what 2 structures are associated with HD?

Answer 5

1. Basal ganglia

2. Corpora striatum (caudate nucleus and striatum)

Question 6

HD is characterized by a decrease in the production of what 3 neurotransmitters?

Answer 6

1. GABA
2. Acetylcholine
3. Metenkephalin

Question 7

HD is characterized by an increase in the potency of what 2 neurotransmitters? What does this lead to?

Answer 7

1. Dopamine
2. Norepinephrine

Causes an imbalance of excitatory and inhibitive responses between the BG and the thalamus

Question 8

Movement testing will reveal _____ and ______ in patients with HD.

Answer 8

Dysmetria

Dysdiadochokinesia

Question 9

Where do choreic movements occur most often? When do they increase/decrease?

Answer 9

1. Choreic movements occur more in the UEs and
   face than LEs
2. ↑ during complex/stressful tasks
3. Disappears during sleep

Question 10

True or False: Patients with HD have an INCREASED fall risk

Answer 10

False

Fall risk is lower than other diseases

Question 11

What findings are seen in HD patients relative to muscle strength and tone?

Answer 11

1. MMT may be normal in early stages, but testing
   may be difficult due to motor disturbances
2. Hypotonia may be present initially, but rigidity
   is often noted accompanying the end stage
   bradykinesia

Question 12

What 4 vision changes are seen in patients with HD?

Answer 12

1. Disturbances of ocular and extraocular muscles fxn
2. Disturbed saccades
3. ↓ gaze fixation
4. ↓ smooth pursuit

Question 13

What are 2 characteristics of Choreiform gait?

Answer 13

1. Wide base of support

2. Staggering movements

Question 14

What 3 oromotor impairments are seen in patients with HD?

Answer 14

1. Dysarthric speech
2. Some aphasia
3. Dysphagia

Question 15

What is cachexia? Why is this a problem?

Answer 15

Muscle wasting

Often noted even in the presence of normal intake

Question 16

How do sleep disturbances often manifest in HD patients?

Answer 16

Manifest as insomnia

Question 17

Incontinence is common in HD patients due to what 4 impairments? What can incontinence lead to?

Answer 17

1. Immobility
2. Hyperreflexia
3. Depression
4. Dementia

Can lead to UTI or skin breakdown

Question 18

What 3 neurophysiological/psychiatric disturbances are common early signs of HD?

Answer 18

1. Cognitive and intellectual changes due to striatal dysfunction (apathy, irritability, depression, violent outbursts, impulsivity)
2. Emotional/behavioral changes are often followed by intellectual changes (Poor memory recall, ↓ organizational and sequencing skills)
3. Ideomotor apraxia and visuospatial deficits

Question 19

What 2 drugs are used to treat the symptoms of HD?

Answer 19

Anticonvulsants

Antipsychotics

Question 20

What are 4 common side effects of medications used to treat HD?

Answer 20

1. Acute dystonias
2. Pseudo-Parkinsonism
3. Akasthesia (uncontrollable physical restlessness)
4. Tardive dyskinesia (around face and mouth)

Question 21

What is the prognosis for HD?

Answer 21

1. Earlier the onset = more severe the disease
2. Death usually occurs 15-20 years after onset
3. Long term survival is possible with management
   of secondary complications