2. *Huntington's Disease aka Huntington’s Chorea*
Prepared by: Vencinth C. Romano BSN 38th Batch
Has a broad impact on a person’s functional abilities and usually
results uncontrolled movements, emotional problems, and loss of
thinking ability (cognition)
Usually begin at age of 30 to 50 (but can start at any age)
is an incurable, adult-onset, autosomal dominant inherited
disorder associated with cell loss within a specific subset of
neurons in the basal ganglia and cortex.
4 to 15 in every100,000 people of European descent have the disease
In 1872 George Huntington described the disorder in his first
paper "On Chorea" (dancing) at the age of 22.
3. HTT contains a sequence of three DNA bases—cytosine-adenine-guanine
(CAG) results a chain of glutamine known as polyglutamine tract (or polyQ
tract). 36 or more chain of glutamines which results in the production of a
protein which has different characteristics called mutant huntingtin (mHTT)
which increases the decay rate of certain types of neurons.
Repeat count Classification Disease
Risk to
offspring
<27 Normal
Will not be
affected
None
27–35 Intermediate
Will not be
affected
Elevated, but
<50%
36–39
Reduced
Penetrance
May or may
not be
affected
50%
40+
Full
Penetrance
Will be
affected
50%
Autosomal Dominant Inheritance. Affected individual inherits one copy of
the gene. Offspring from affected individual has a 50% risk having the
disease.
GENETIC INHERITANCE
ETIOLOGY
4. PATHOPHYSIOLOGY
Longer HTT gene
sequence results a
chain of 36 or more
glutamines (mHTT)
mHTT increase the
decay rate of
neurons specially the
Striatum in the Basal
Ganglia
Degeneration of
Neurons
Uncontrolled
movements or
Chorea
Damaged of
special inhibitory
neurotransmitters
called GABA
Cognitive Disorders
Emotional Disorders
Prepared by: Vencinth C. Romano BSN 38th Batch
5. • Slowness in processing thoughts or ''finding'' words
• Difficulty with the physical production of speech or swallowing
Cognitive Disorders
• 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
• Difficulty in learning new information
Signs and Symptoms:
Risk Factor: Having a parent with Huntington's Disease
• Muscle problems, such as rigidity or muscle contracture (dystonia)
• Slow or abnormal eye movements
• Impaired gait, posture and balance
Movement disorders
• Involuntary jerking or writhing movements (chorea)
6. Psychiatric disorders
Prepared by: Vencinth C. Romano BSN 38th Batch
Social withdrawal
Insomnia
• 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
• Feelings of irritability, sadness or apathy
Depression
7. Prepared by: Vencinth C. Romano BSN 38th Batch
Medical Management:
Psychotherapy
Speech therapy
Physical therapy
Occupational therapy
Diagnosis: Genetic Testing Complication: Pneumonia, heart
disease, physical injury from falls
and suicide (9%). Death typically
occurs fifteen to twenty years
from when the disease was first
detected.
Treatment: No cure to stop or reverse
Huntington's disease. Tetrabenazine,
antipsychotic drugs, antidepressants, and
tranquilizers can help control the signs and
symptoms.
8. Prepared by: Vencinth C. Romano BSN 38th Batch
NURSING
RESPONSIBILITIES
Educate Family
Encourage to be socialy active
Use other communication strategies
Feed patient slowly
Keep away from sharp objects
Medical Management:
Psychotherapy
Speech therapy
Physical therapy
Occupational therapy
Diagnosis: Genetic Testing
Complication: Pneumonia, heart
disease, physical injury from falls
and suicide (9%). Death typically
occurs fifteen to twenty years
from when the disease was first
detected.
Treatment: No cure to stop or reverse
Huntington's disease. Tetrabenazine,
antipsychotic drugs, antidepressants, and
tranquilizers can help control the signs and
symptoms.
Striatum - The striatum, or corpus striatum[5] (also called the neostriatum and the striate nucleus), is a nucleus (a cluster of neurons) in the subcortical basal ganglia of the forebrain. The striatum is a critical component of the motor and reward systems; The reward system is a group of neural structures responsible for incentive salience (i.e., motivation and "wanting", desire, or craving for a reward), associative learning (primarily positive reinforcement and classical conditioning), and positively-valenced emotions, particularly ones which involve pleasure as a core component (e.g., joy, euphoria and ecstasy).
Psychotherapy
A psychotherapist — a psychiatrist, psychologist or clinical social worker — can provide talk therapy to help a person manage behavioral problems, develop coping strategies, manage expectations during progression of the disease and facilitate effective communication among family members.
Speech therapy
Huntington's disease can significantly impair control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve your ability to speak clearly or teach you to use communication devices — such as a board covered with pictures of everyday items and activities. Speech therapists can also address difficulties with muscles used in eating and swallowing.
Physical therapy
A physical therapist can teach you appropriate and safe exercises that enhance strength, flexibility, balance and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls.
Instruction on appropriate posture and the use of supports to improve posture may help lessen the severity of some movement problems.
When the use of a walker or wheelchair is required, the physical therapist can provide instruction on appropriate use of the device and posture. Also, exercise regimens can be adapted to suit the new level of mobility.
Occupational therapy
An occupational therapist can assist the person with Huntington's disease, family members and caregivers on the use of assistive devices that improve functional abilities. These strategies may include:
Handrails at home
Assistive devices for activities such as bathing and dressing
Eating and drinking utensils adapted for people with limited fine motor skills
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