Huntington's Disease

Question 1

Describe Huntington’s disease (4).

Answer 1

• Autosomal dominant neurodegenerative disorder
• abnormal expansion of IT-15 gene on chromosome 4 which encodes the protein huntingtin
• Hyperactivity in the basal ganglia
• Most develop the disease between 30-54 years old (can be early as 4 y/o)

Question 2

If parent has affected gene what change does a child have of developing huntington’s?

Answer 2

• 50% chance

Question 3

How is huntington’s diagnosis (2)?

Answer 3

• Genetic testing

- Detection of which offspring have the faulty chromosome is possible presymptomatically

Question 4

What is the prognosis of huntington’s diagnosis (2)?

Answer 4

• Progressive disease
• Death occurs about 15 – 25 years after onset of symptoms
• death usually caused by pneumonia, heart failure
  or infection developing from the body’s weakened condition

Question 5

What medical management can be done for huntington’s (3)?

Answer 5

• symptom management with medications
• perphenazine, haloperidol, and reserpine for choreiform movements
• psychiatric and anti-depressant medications

Question 6

Physical therapy treatment goals when working with huntington’s (6)?

Answer 6

• Maintenance of optimal quality of life
• Functional skills training
• Caregiver training
• Adaptive equipment
• Techniques to reduce tone and reduce chorea movements and increase stability
• Maintain respiratory function

Question 7

What should PT interventions emphasize?

Answer 7

• Emphasis on stability and core strength
• PNF stabilization techniques in various postures can be quite beneficial
• Examples: quadruped, hooklying activities and bridging

Question 8

In general, what should PT interventions consist of for huntington’s patients (8)?

Answer 8

• Balance and coordination training
• Gait training (rhythmical auditory stimulus may be helpful)
• Strengthening and endurance training
• Emphasis on stability and core strength
• Relaxation techniques and deep breathing exercises
• HEP development with emphasis in core strength and stability
• Equipment evaluations, recommendations and training
• Caregiver training for mobility in later stages

Question 9

What clinical presentation will you see with huntington’s disease (3)?

Answer 9

• motor
• cognitive
• psychiatric

Question 10

What motor impairments will you see with huntington’s (6)?

Answer 10

• Involuntary movements (chorea) (extra movement in face, trunk, and extremities) (abnormal postural reactions and trunk rotation)
• Impaired voluntary movements
• Reduced dexterity (fine movements are clumsy and slow)
• Slurred speech
• Swallowing difficulties
• Balance problems

Question 11

What cognitive impairments will you see with huntington’s (2)?

Answer 11

• Loss of speed and flexibility of thinking

- Later becomes global cognitive impairments, dementia

Question 12

What psychiatric impairments will you see with huntington’s (9)?

Answer 12

• Depression
• Mania
• Obsessive-compulsive disorder
• Irritability
• Anxiety
• Agitation
• Impulsivity
• Apathy
• Social withdrawal

Question 13

What will a patients gait look like with huntington’s disease (4)?

Answer 13

• Ataxic, dancing gait
• Wide BOS
• Decreased cadence
• Increased lateral sway

Question 14

At what stage of huntingtons can the patient no longer work or handle finances?

Answer 14

• stage 4

Question 15

At what stage of huntingtons can the patient no longer manage domestic responsibilities?

Answer 15

• stage 4 (stage 3 is impaired ability)

Question 16

At what stage of huntingtons will the patient need help with ADL’s?

Answer 16

• stage 3 (mildly)
• stage 4 (moderately)
• stage 5 (severely)

Question 17

At what stage of huntingtons will the patient need to be in an extended care facility to receive the proper care?

Answer 17

• stage 4 (possible be at home or extended care facility)

- stage 5 (total care facility)