Huntington's disease is a hereditary, progressive brain disorder causing physical, mental, and emotional changes, primarily affecting the basal ganglia and cortex. Diagnosis involves genetic testing and clinical evaluation, while symptoms include cognitive decline, mood changes, and involuntary movements, typically starting between ages 30-50. There is currently no cure, and treatment focuses on managing symptoms and improving quality of life through a multi-disciplinary approach.

1. Sidra Akhtar

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.