HUNTINGTON’S DISEASE • According
Medicine, if there is a large number of
Description of the disease (etymology)
BRIEF HISTORY
• Named after George Huntington, an
American physician, who described it
to the residents of East Hampton,
Long Island, New York in 1872.
• It is a hereditary neurodegenerative
disease, inherited from parents to
children.
• In 1993, a group of investigators
found its cause and can be discovered
through blood or tissue samples. The
diagnosis and discovery of the disease
has been easier due to the discovery
of its cause.
DEFINITION
• Huntington’s disease is a condition
that stops the brain from working
properly over time.
• Can be passed or inherited to a
person’s parents.
• Can affect the movement, cognition,
and mental health of a person.
• Also called ‘dancing disease’.
• It can be developed through a faulty
gene, meaning there has been a
mutation on chromosome 4 which
contains the CAG repeat sequence.
• In Huntington’s diseases, the gene
present contains too many CAG
repeats.
1|Pa g e CIPAT, M.B.A., CONDRADA, J.M., KUIZON, N.
to John Hopkins
CAG (cytosine, adenine, and
guanine) repeats, the disease can be
developed in younger or earlier in life
and called ‘anticipation’.
RISK
• A person can be at risk of developing
Huntington’s disease if one or both
parents has or had this disease.
• 1 in 2 (50%) chance of each of their
children developing the condition –
affected children are also able to pass
the gene to any children they have.
• 1 in 2 (50%) chance of each of their
children never developing the
condition – unaffected children
cannot pass the condition on to any
children they have.
• It can happen both in men and
women, (depend if they have
inherited the gene).
• Very occasionally, it can be
developed even without any family
history but only happens if parents
were not diagnosed with Huntington's
disease or died before being
diagnosed.
STATISTICS OF PREVALENCE
• Mostly affects Caucasian population
wherein more than 5 per 100,000 are
possible to be affected in European
countries.
• There is unknown data for the
Philippines.
Signs and symptoms
• Usually starts at the age of 30 to 50
years.
• But can start at an early age, earlier
than the age where the parents had
developed it.
• Uncontrolled movement of the arms,
legs, head, face and upper body -
chorea, distinct symptom from other
disorders
• Not all diagnosed with Huntington’s
disease have chorea because there are
people that do not possess chorea
despite having other clinical signs and
symptoms of the disease.
• Stumbling and clumsiness
• Difficulty concentrating and memory
lapses
• Mood swings and personality
changes
• Depression
• Apathy which is described wherein a
person appears to or has a lack of
interest in hygiene and self-care; due
to depression
• People diagnosed with HD are
depressed because they are adjusting,
have an increased disability, and grief
because the disease may be fatal
(100-30 years after the first symptoms
developed)
• Problems in swallowing and speaking
and breathing (there is weakness in
throat muscles)
• Difficulty moving
• Decline in thinking and reasoning
skills, cognitive impairment,
2|Pa g e CIPAT, M.B.A., CONDRADA, J.M., KUIZON, N.
involuntary muscle movements,
behavioral changes, and weakness
of throat muscles
Lab tests/ diagnostic procedures
• Neurological tests and medical
history.
• To rule out their condition.
• Review their reflexes,
balance, movement, muscle
tone, hearing, walking, and
mental status
• Diagnostic imaging.
• Recommended to use brain
imaging, such as CT scan and
MRI
• Genetic test.
• Confirm or rule out the
suspected genetic condition.
• To confirm diagnosis from the
initial method of interview.
• Determine if there is a chance
to develop the disease
• If the disease is inherited
• Most effective and accurate
method of testing for
Huntington's disease
• Done using a blood or spit
sample.
• Results will be known after a
few weeks
MANAGEMENT
Huntington’s disease is currently
incurable. Treatment cannot reverse its
progression or slow it down. However,
medication and other therapies can help
manage some symptoms. Currently, the Food
and Drug Administration (FDA) has
approved two medications specifically to
treat Huntington’s symptoms.
Pharmacological Management
• Tetrabenazine (Xenazine) treats the
jerky, involuntary movements or
chorea that can occur with
Huntington’s disease. Side effects
include depression and suicidal
thoughts or actions.
• Deutetrabenazine (Austedo) also
treats involuntary movements,
particularly those that may occur in
the face and tongue.
• Antipsychotic drugs, such as
haloperidol and fluphenazine for
treating chorea. However, these drugs
may worsen involuntary contractions
(dystonia), restlessness and
drowsiness. Other drugs, such as
olanzapine (Zyprexa) and
aripiprazole (Abilify), may have
fewer side effects but still should be
used with caution, as they may also
worsen symptoms.
Medical Management (bed rest,
hospitalization, vitamins)
• Exercise therapies to help
movement problems
• Psychotherapy for depression and
anxiety that often accompany
Huntington’s disease
• Speech therapy improve your ability
to speak clearly or teach you to use
communication devices
3|Pa g e CIPAT, M.B.A., CONDRADA, J.M., KUIZON, N.
• Physical therapy for posture and the
use of supports to improve posture
may help lessen the severity of some
movement problems.
• Occupation therapy improve
functional abilities.
• Medications to lessen the mental and
physical effects of the disease
Surgical Management (surgeries,
procedures, important to treat)
No treatments can alter the course of
Huntington's disease, but there is a treatment
for certain neurological conditions that is also
being investigated for Huntington's Disease.
• Deep brain stimulation (DBS)
involves the surgical implantation of
an electrode in the brain. A stimulator
is placed in the chest and wires are
snaked through the neck to provide
electrical stimulation to the brain.
DBS has been used to treat depression
and Parkinson’s disease, and may be
effective for the treatment of
Huntington’s disease.
NURSING RESPONSIBILITIES
Pharmacological responsibilities
Drugs to control movement include
tetrabenazine (Xenazine) and
deutetrabenazine (Austedo), which have been
specifically approved by the Food and Drug
Administration to suppress the involuntary
jerking and writhing movements (chorea)
associated with Huntington's disease.
Tetrabenazine (Rx) Indicated for treatment of
chorea associated with Huntington’s disease.
Individualize and slowly titrate dosage over
several weeks to identify a dose that reduces
chorea and is well tolerated.
• This drug should be administered
12.5 mg PO qDay initially; after 1
week, the dose should be increased to
12.5 mg q12hr. Dosing
Considerations, may take with or
without food.
• Dosing Considerations may take with
or without food.
Interventions for Huntington's disease
include genetic counseling in addition to the
administration of neuroleptics and
tetrabenazine. Nursing considerations
include educating the patient about the stages
of Huntington's disease and recommending a
high calorie diet to prevent malnutrition.
Medical responsibilities
Huntington disease is a serious
neurogenetic disease that affects the physical,
cognitive, and psychiatric health of the
patient, and has a significant impact on the
social life of the family. Nurses play a vital
role as health care providers and advocates
for the patient with Huntington disease.
1. Prevent injury and possible skin
breakdown
o Pad the sides and head of the
bed
o Keep the skin meticulously
clean
4|Pa g e CIPAT, M.B.A., CONDRADA, J.M., KUIZON, N.
o Encourage ambulation with
assistance to maintain muscle
tone
o Secure the patient in bed or
chair with padded protective
devices making sure they are
loosened frequently
2. Keep the patient as close to upright as
possible while feeding. Stabilize the
patient's head gently with one hand
while feeding.
3. The nurse needs to educate and
support the patient and family as they
adjust to the lifestyle changes that are
required.
4. The actions and potential side effects
of medication regimen need to be
taught, monitored and adjusted to the
desired patient response.
5. Regular moderate exercise can reduce
stiffness and tremors.
6. As the disease progresses, the patient
and family will require more
assistance with activities of daily
living, emotional support, and
potential financial concerns.
Surgical responsibilities
Huntington’s disease is a hereditary
illness in which brain cells degenerate,
causing involuntary, jerky movements
known as chorea as well as dementia and
psychiatric problems. It eventually leads to
death. There is currently no cure and no
effective treatments that can delay the
disease.
 Germany and UK-based researchers
have found that a surgical implantation
procedure known as pallidal deep brain
stimulation was safe when placed into the
brain for the reduction of movement
problems in Huntington’s disease.
Deep brain stimulation (DBS)
involves the surgical implantation of an
electrode in the brain. A stimulator is placed
in the chest and wires are snaked through the
neck to provide electrical stimulation to the
brain. DBS has been used to treat depression
and Parkinson’s disease and may be effective
for the treatment of Huntington’s disease.
Deep brain stimulation (DBS) of the
pallidum is a promising symptomatic
treatment targeting the core motor symptom:
chorea.
• Nursing staff should monitor the
patient overnight for cerebral edema
and increased intracranial pressure
and conduct neurologic assessment
5|Pa g e CIPAT, M.B.A., CONDRADA, J.M., KUIZON, N.
(including dressing checks) every 1 to
2 hours depending on patient
condition, age, and previous medical
history.
• Before surgery, you'll likely need
medical tests to make sure that deep
brain stimulation is a safe and
appropriate option for you. You may
also need brain-imaging studies, such
as an MRI, before the surgery. These
studies help to map the areas of your
brain that will have the electrodes
implanted.
• Routine nursing after general
anesthesia, rest in bed within 24
hours, reduce activities, closely
observe whether there is active
bleeding, as well as changes in vital
signs, pupils, wound dressing and
subcutaneous conditions, body
movements, language and
swallowing function, and report to the
doctor in time if there is any problem.
All wounds should be kept clean and
dry for the first 2 days after surgery.
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