Huntington disease

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Huntington disease

• Vicki Wheelock MD
• HDSA Center of Excellence at UC Davis

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Definition of HD

• Slowly progressive, hereditary brain disease that
  causes changes in movement, thinking and behavior
• Onset commonly ages 30-50
• Diagnosis is made by neurologist based on
  symptoms and examination, and may be confirmed by
  a blood test for genetic testing

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Understanding the symptoms of HD.

• Gene changes lead to. brain changes

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Genetics of HD
GENE
Protein
Normal number lt31 CAG Gray area 32-38
CAG Huntington disease gt 38 CAG
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Brain changes in HD
Aylward EH. Brain Research Bulletin
200362137-141
MRI scan
Microscopic view
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Huntington Disease Stages

• Stage 1
• Slightly lower performance at work independent
  at home
• Stage 2
• Can still work (lower level), still mostly
  independent at home
• Stage 3
• Difficult to work, starts to needs help with
  financial, home activities
• Stage 4
• Unable to work. Needs major assistance with care
• Stage 5
• Full-time nursing care required

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Symptoms in HD
MOTOR
COGNITIVE
EMOTIONAL
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Behavior changes in HD
Starting/stopping activities
Multi-tasking
Creativity
Episodic anger Irritability
Organizing Concentrating Prioritizing
Memory
Changes in sleep/wake cycle

• Normal

• Advanced HD

Impulsiveness
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Movement changes in HD
Chorea involuntary movements
Balance problems
Slow eye movements
Restless, fidgets

• Normal

• Advanced HD

Slowness of movement
Fine motor tasks
Trouble swallowing
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Motor disorder

• Too much movement
• Motor restlessness
• Chorea
• Dystonia
• Tremor
• Too little movement
• Slowness of movement

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Motor symptomsLoss of control of movement

• Decreased control, especially in
• Planning and selecting
• Sequencing
• Learning new movements
• Performing movements during interference

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Chorea repetitive, involuntary fragments of
movement

• Grimacing
• Blinking or opening eyes
• Mouth, lip or tongue movements
• Arm, hand movements
• Trunk, hips, pelvis move
• Leg movements
• Mostly seen during relaxed state or when focusing
  on other things

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Slowness of movement in HD

• Loss of facial expression
• Slow to stand from seated position
• Difficulty turning over in bed
• Finger and hand movements are slower
• Buttoning
• Writing
• Eating

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Change in balance and falls

• Loss of balance due to minor tripping is
  sometimes an early HD symptom
• More often, falls dont occur until later stages
  of HD
• Chorea can make it easier to fall
• TIPS to help
• Balance exercises
• Slow down!
• Use vision to compensate look where you are
  walking, light up the runway between bedroom
  and bathroom at night
• Be careful when carrying things

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Swallowing problems

• Assessment by speech and language therapist is
  extremely helpful
• Specific advice about strategies to reduce
  choking
• Head position
• Textures of food
• Medications have limited role ?Prozac

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Thinking changes in HD

• Early Stage
• Normal IQ only specialized tests show problems,
  but work/home performance may decline
• Middle Stage
• Memory, visuospatial deficits, impaired judgment
• Late Stage
• The person with HD is aware, but communication is
  difficult

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The Cognitive Disorder Executive Function

• Organizing
• Prioritizing
• Controlling impulses
• Monitoring self-awareness
• Beginning and ending activities
• Creative thinking
• Problem-solving

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Emotional problems in HD

• Depression 40 - 80
• Anxiety 30 - 40
• Obsessions/compulsions 10 - 20
• Irritability common
• Apathy 20
• Episodic anger common
• Psychosis 5

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What can we do to help people with HD?
H S GHuntington Study Group
SET-HD
HDSA
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Treatments for HD

• No definite treatments exist now to help slow
  down HD
• Research is leading to possible treatments
• Minocycline
• Cysteamine
• Ethyl EPA (fish oil)
• Coenzyme Q10
• Creatine
• Others..

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Symptomatic treatment for HD

• Motor symptoms
• Cognitive symptoms
• Emotional/behavioral symptoms
• Swallowing problems
• Nutrition

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Motor symptoms

• Chorea
• Amantadine, Klonopin, Zyprexa, Haldol, Prolixin,
  Tetrabenazine
• Slowness, rigidity
• Amantadine, Sinemet
• Dystonia
• Klonopin, Botox

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Behavioral/thinking symptoms

• Memory problems
• Aricept, Reminyl, memantine, others
• Apathy
• Structure, behavioral treatments
• Stimulant medications
• Irritability
• Seek triggers, set structure
• ?Depressed or anxious treat those symptoms
• Episodic anger
• See above
• Sometimes mood stabilizers (Zyprexa)

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Emotional symptoms

• Depression
• SSRI meds (Prozac, Paxil, Zoloft, Welbutrin etc)
• Anxiety
• SSRI meds, sometimes Klonopin
• Obsessions/compulsions
• SSRI meds
• Paranoia, delusions (false beliefs),
  hallucinations
• Antipsychotics (Zyprexa, Prolixin, Haldol,
  Risperdal, etc)

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Resources for families and patients

• www.HDSA.org
• www.huntingtonproject.org
• www.hdsanortherncalifornia.org
• www.HDteam.org