Transcript Patient 6 PowerPoint by Jody Baker Case Report • A 35 year old teacher named Susan was referred to us from a psychologist.

Patient 6
PowerPoint by Jody Baker
Case Report
• A 35 year old teacher named Susan was referred
to us from a psychologist here. She was being
treated for depression and mild mood swings
until new physical symptoms emerged. Her
hands and feet involuntary move in an almost
dance like movement. Her mother apparently had
the same symptoms, but died in a car crash
before she was diagnosed. She also claims to
have trouble remembering little things, to be
more clumsy, and to fall more often now.
Diagnosis
• She was determined to have
Huntington’s Disease for several
reasons:
– One form of the disease is adult onset, at
about her age of 35
– It is hereditary as, assuming her mother
had it, she had a 50% chance of getting
this disease
– The symptoms include quick or sudden
movements of the limbs or body parts,
moodiness, loss of memory
The Cause of
Huntington’s Disease
• The disease is caused by a CAG
trinucleotide repeat. A protein called
huntingtin is produced by this gene called
HTT and, in normal people , the CAG
segment is repeated 10 to 35 times. In
people with Huntington's Disease, the
segment is repeated 36 to 120 times. While
those with repeats up to 40 may not show
symptoms, above that almost always leads
to the disease. Anyone with more than 36
repeats can pass down the disease.
The Effects of
Huntington's Disease
• The repeat causes an
elongated huntingtin protein
that is cut into small fragments.
Those fragments are toxic and
pool in neurons while binding
together. They eventually
inhibit the cell’s function and
lead to its death. As many
neurons die, certain areas of
the brain begin to lose
functionality and the disease
becomes noticeable.
What Areas of the
Brain Are Affected?
• Basal ganglia, cerebral
cortex, the frontal, and
temporal lobes
• Responsible for
movement, complex,
thought, emotion,
problem solving,
memory, and language
Life With Huntington’s
Disease
• The disease is incurable , but certain aspects are treatable.
• Drugs like amantadine and tetrabenazine can control extra
movements.
• Dopamine blockers can help reduce abnormal behaviors
and movements
• Anitpsychotic drugs like haloperidol or clonazepam can
help reduce random movements and hallucinations and
delusions. They can, however, worsen the stiffness and
rigidity called dystonia.
• They may also experience depression and need to be
monitored, possible needing 24-hour care.
• Most can only expect 15 to 20 years more after the disease
becomes evident.
Professionals Who Can
Help
• It is recommended that anyone
with this disease should seek a
psychologist, and a DNA analyst.
• A caregiver may be necessary or
even a long term nursing facility
DNA Analyst
• The number of CAG repeats can
indicate the severity of this
disease, so it is recommended
that the gene for the huntingtin
protein on chromosome 4 is
analyzed.
Psychologist
• A psychologist is of the utmost
importance for anyone with this
disease because most people do
not die of the disease, they
commit suicide. A psychologist
can help people with this disease
enjoy whatever time they have.
Sources
• Miller, J. (2011, December 02). How Huntington’s
Disease affects the brain. Retrieved from
http://www.huntingtons.org.nz/res_news_2a.php
• (2008, October). Huntington disease. Retrieved from
http://ghr.nlm.nih.gov/condition/huntington-disease
• (2011, April 30). Huntington's disease. Retrieved from
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001
775/
• Huntington's Disease (Huntington Disease). Retrieved
from
http://www.medicinenet.com/huntington_disease/articl
e.htm
• Google Images