Huntington's disease is a condition that stops parts of the brain working properly over time. It's passed on (inherited) from a person's parents. It gets gradually worse over time and is usually fatal after a period of up to 20 years.
2. History
Discovered in 1872 by George Huntington.
Huntington discovered the disorder after
observing similar symptoms in certain family
members.
3. Huntington's Disease
Huntington's disease (HD) is a progressive, inherited,
degenerative brain disorder that produces physical, mental
and emotional changes and causes the progressive
breakdown (degeneration) of nerve cells in the brain.
Huntington's disease is associated with cell loss within the
basal ganglia and cortex.
4. Cont…
Huntington's disease was originally called
Huntington's chorea ("chorea" is the Greek
word for dancing).
This is because the involuntary movements
associated with the condition can look like
jerky dancing.
However, "disease" is now the preferred term,
because the condition involves a lot more
than just abnormal movements.
5. Diagnostic Criteria (DSM 5)
The criteria are met for major or mild
neurocognitive disorder.
There is insidious onset and gradual
progression.
There is clinically established Huntington’s
disease, or risk for Huntington’s disease based
on family history or genetic testing.
The neurocognitive disorder is not attributable
to another medical condition and is not better
explained by another mental disorder.
6. Diagnosing Huntington's Disease
Every child of a parent who carries the HD
gene has a 50% chance of inheriting the
abnormal gene.
A child who inherits the Huntington's gene
will eventually develop the illness. Genetic
testing can diagnose Huntington's at every
stage of the life cycle.
7. There are four categories
for testing:
1. Prenatal testing, either amniocentesis (a
sample of fluid from around the fetus), or
chorionic villus sampling (CVS—a sample of
fetal cells from the placenta), will indicate
whether the baby has inherited the gene for
Huntington's.
2. Pre-symptomatic testing's available to people
who are at risk of inheriting Huntington’s
Disease from a parent, but don’t have
symptoms and don’t know whether or not they
carry the gene.
8. Cont…
3. Confirmatory testing determines whether a
person showing what appear to be the symptoms
of HD, actually has the disease. Neurological and
psychological tests are also conducted.
4. Pre-symptomatic testing is usually requested or
recommended when a parent is known to have,
or is suspected of having, Huntington's Disease,
or an at-risk parent is still living, but doesn't know
whether they carry the Huntington's gene.
9. Signs and symptoms of
Huntington's Disease
Huntington's Disease affects the mind,
body, and emotions, symptoms often mimic
other conditions. The general symptoms in
early stages can include: poor memory
difficulty making decisions mood changes
such as increased depression, anger or
irritability; a growing lack of coordination,
uncontrolled movements; difficulty walking,
speaking, and/or swallowing. The order in
which symptoms develop will vary from
person to person.
10. Physical symptoms
Development of tics (involuntary movement) in
the fingers, feet, face, or trunk
Increased clumsiness
Loss of coordination and balance
Slurred speech
Jaw clenching or teeth grinding
Difficulty swallowing or eating
Continual muscular contractions
Stumbling or falling
11. Mental symptoms
Decreased concentration
Forgetfulness and memory decline
Poor judgment
Difficulty making decisions or answering
questions
Difficulty driving
Over time, these symptoms may progress to
a stage where the person loses the ability to
recognize familiar objects, people and
places.
12. Emotional symptoms
Most common psychiatric symptom of
Huntington's Disease, will generally
manifest as:
Irritability
Lack of energy
Ongoing disinterest in life (lack of pleasure
or joy)
Bipolar disorder (manic-depression) in
some Huntington's patients.
13. A person with Huntington's Disease may
eventually begin to exhibit psychotic
behavior, such as:
Delusions
Hallucinations
Inappropriate behavior (e.g., unprovoked
aggression).
14. Differential diagnosis
About 99% of HD diagnoses based on the
typical symptoms and a family history of
the disease are confirmed by genetic
testing to have the expanded trinucleotide
repeat that causes HD. Most of the
remaining are called HD-like disorders.
Most of these other disorders are
collectively labeled HD-like (HDL). The
cause of most HDL diseases is unknown,
but those with known causes are due to
mutations in the prion protein gene (HDL1),
the junctophilin 3 gene (HDL2), a
recessively inherited HTT gene (HDL3).
15. Prevalence
the worldwide prevalence is estimated to
be 2.7 per 100,000
in North America, Europe, and Australia
is 5.7 per 100,000
with a much lower prevalence of 0.40
per 100,000 in Asia
16. Development and Course
The mean age at onset of symptoms is 30-50
years. In some cases symptoms start before the
age of 20 years with behavioral disturbances and
learning difficulties at school (juvenile Huntington's
disease)..
The disease is gradually progressive, with median
survival approximately 15 years after motor
symptom diagnosis.
17. Diagnosis And Treatment
It can be diagnosed by a doctor using these methods:
1. Examination
2. Genetic Testing
3. Embryonic testing
18. There is no cure for Huntington disease. There is no known
way to stop the disease from getting worse. The goal of
treatment is to slow the symptoms and help the person
function for as long as possible.
Medicines can be prescribed, depending on the symptoms.
Dopamine blockers may help reduce abnormal behaviors
and movements.
Drugs such as amantadine are used to try to control extra
movements.
Depression and suicide are common among persons with
Huntington disease. It is important for caregivers to monitor
for symptoms and seek medical help for the person right
away.
As the disease progresses, the person will need assistance
and supervision, and may eventually need 24-hour care
19. The emphasis today is on living positively with
Huntington's Disease. An integrated, multi-
disciplinary approach focuses on the triad of:
diet and supplements
exercise
spiritual and psychosocial support
This well-rounded program enhances quality of life
for people living with Huntington's Disease, as well
as for those at risk of developing HD, and may
very likely delay the onset of symptoms. Foods
known to nourish the brain, support memory and
build overall immunity are especially
recommended.