Title: Huntington disease
1Huntington disease
- Vicki Wheelock MD
- HDSA Center of Excellence at UC Davis
2Definition 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
3Understanding the symptoms of HD.
- Gene changes lead to. brain changes
4Genetics of HD
GENE
Protein
Normal number lt31 CAG Gray area 32-38
CAG Huntington disease gt 38 CAG
5Brain changes in HD
Aylward EH. Brain Research Bulletin
200362137-141
MRI scan
Microscopic view
6Huntington 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
7Symptoms in HD
MOTOR
COGNITIVE
EMOTIONAL
8Behavior changes in HD
Starting/stopping activities
Multi-tasking
Creativity
Episodic anger Irritability
Organizing Concentrating Prioritizing
Memory
Changes in sleep/wake cycle
Impulsiveness
9Movement changes in HD
Chorea involuntary movements
Balance problems
Slow eye movements
Restless, fidgets
Slowness of movement
Fine motor tasks
Trouble swallowing
10Motor disorder
- Too much movement
- Motor restlessness
- Chorea
- Dystonia
- Tremor
- Too little movement
- Slowness of movement
11Motor symptomsLoss of control of movement
- Decreased control, especially in
- Planning and selecting
- Sequencing
- Learning new movements
- Performing movements during interference
12Chorea 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
13Slowness 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
14Change 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
15Swallowing 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
16Thinking 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
17The Cognitive Disorder Executive Function
- Organizing
- Prioritizing
- Controlling impulses
- Monitoring self-awareness
- Beginning and ending activities
- Creative thinking
- Problem-solving
18Emotional problems in HD
- Depression 40 - 80
- Anxiety 30 - 40
- Obsessions/compulsions 10 - 20
- Irritability common
- Apathy 20
- Episodic anger common
- Psychosis 5
19What can we do to help people with HD?
H S GHuntington Study Group
SET-HD
HDSA
20Treatments 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..
21Symptomatic treatment for HD
- Motor symptoms
- Cognitive symptoms
- Emotional/behavioral symptoms
- Swallowing problems
- Nutrition
22Motor symptoms
- Chorea
- Amantadine, Klonopin, Zyprexa, Haldol, Prolixin,
Tetrabenazine - Slowness, rigidity
- Amantadine, Sinemet
- Dystonia
- Klonopin, Botox
23Behavioral/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)
24Emotional 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)
25Resources for families and patients
- www.HDSA.org
- www.huntingtonproject.org
- www.hdsanortherncalifornia.org
- www.HDteam.org