HUNTINGTON’S DISEASE

 HUNTINGTON’S DISEASE
 Huntington’s disease (HD) is a fatal genetic disorder that
causes the progressive breakdown of nerve cells in the
brain. It deteriorates a person’s physical and mental.
 The disease is caused by an autosomal dominant mutation
in either of an individual's two copies of a gene called
Huntingtin. This means a child of an affected person
typically has a 50% chance of inheriting the disease. The
Huntingtin gene provides the genetic information for a
protein that is also called "huntingtin" bilities during their
prime working years and has no cure.
 The disease affects men and women equally
 There is no cure for HD. Full-time care is required in the later
stages of the disease. Treatments can relieve some
symptoms and in some improve quality of life
Pathophysiology
 There is destruction of cells in the caudate
nucleus and putamen areas of the basal
ganglia and extrapyramidal motor system.
The neurotransmitters, gamma-aminobutyric
acid (GABA) and Ach are decreased.
Dopamine is not affected, but the decrease
of Ach cause relative increase of dopamine in
the basal ganglia. The excess dopamine
causes uncontrolled movement in
Huntington’s chorea.
 SIGNS AND SYMPTOMS
 Symptoms usually appear between the ages of 30 to 50,
and worsen over a 10 to 25 year period.
 Movement disorders
 The movement disorders associated with Huntington's
disease can include both involuntary movement problems
and impairments in voluntary movements, such as:
 Involuntary jerking or writhing movements (chorea)
 Muscle problems, such as rigidity or muscle contracture
(dystonia)
 Slow or abnormal eye movements
 Impaired gait, posture and balance
 Difficulty with the physical production of speech or
swallowing
 Impairments in voluntary movements — rather than the
involuntary movements — may have a greater impact on a
person's ability to work, perform daily activities,
communicate and remain independent.
 Cognitive disorders
 Cognitive impairments often associated with
Huntington's disease include:
 Difficulty organizing, prioritizing or focusing on tasks
 Lack of flexibility or the tendency to get stuck on a
thought, behavior or action (perseveration)
 Lack of impulse control that can result in outbursts,
acting without thinking and sexual promiscuity
 Lack of awareness of one's own behaviors and
abilities
 Slowness in processing thoughts or ''finding'' words
 Difficulty in learning new information
Psychiatric disorders
 The most common psychiatric disorder
associated with Huntington's disease is
depression. This isn't simply a reaction to receiving
a diagnosis of Huntington's disease. Instead,
depression appears to occur because of injury to
the brain and subsequent changes in brain
function. Signs and symptoms may include:
 Feelings of irritability, sadness or apathy
 Social withdrawal
 Insomnia
 Fatigue and loss of energy
 Frequent thoughts of death, dying or suicide
 Other common psychiatric disorders include:
 Obsessive-compulsive disorder — a condition
marked by recurrent, intrusive thoughts and
repetitive behaviors
 Mania, which can cause elevated mood,
overactivity, impulsive behavior and inflated self-
esteem
 Bipolar disorder — a condition with alternating
episodes of depression and mania
 In addition to the above symptoms, weight loss is
common in people with Huntington's disease,
especially as the disease progresses.
 Complications
 Weight loss
 Pneumonia
 Congestive heart failure
 Incapacitated
 Bed sore
 Diagnosis
 Analysis of the CAG (cytosine-adenine-guanine)
repeat sequence in the huntingtin gene may be
of use in three diagnostic situations.
 1. MRI
 2. CT scans
 3. Genetic Testing
 MEDICAL MANAGEMENT
 Although no treatments halts or reverse the
underlying processes, several medications
prescribed.
 Disease management includes rehabilitative
therapy, teaching, counseling and
professional legal, financial and estate
planning advice.
 Pharmacological methods of treatment are
carefully considered when treating
Huntington’s disease. Many medications can
be used and it is important to assess the
combination of medications that are used.
 Medications administered to manage
Huntington’s disease:
 Rilutek (riluzole) is currently being studied to
decrease cognitive manifestations
 Skeletal muscle relaxants to modify the
choreiform movements
 Antipsychotics to block the dopamine receptors
in the brain
 Antidepressants to help control the chorea,
behavioral changes and depression
 Nursing Management
 Prevent injury and possible skin breakdown
 Pad the sides and head of the bed
 Keep the skin meticulously clean
 Encourage ambulation with assistance to maintain
muscle tone
 Secure the patient in bed or chair with padded
protective devices making sure they are loosened
frequently
 Keep patient as close to upright as possible while
feeding. Stabilize patient’s head gently with one hand
while feeding
 The nurse needs to educate and support the patient
and family as they adjust to the lifestyle changes that
are required.
 The actions and potential side effects of
medication regimen need to be taught,
monitored and adjusted to the desired patient
response.
 Regular moderate exercise can reduce stiffness
and tremors.
 As the disease progresses, the patient and
family will require more assistance with activities
of daily living, emotional support, and potential
financial concerns.
 Nursing Diagnosis
 Risk for injury from falls and possible skin
breakdown (pressure ulcers, abrasions), resulting
from constant movement
 Imbalanced nutrition: less than body
requirements due to inadequate intake and
dehydration resulting from swallowing or
chewing disorders
 Risk for aspiration related to swallowing difficulty
 Anxiety and impaired communication from
excessive grimacing and unintelligible speech
 Disturbed thought processes and impaired
social interaction