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Most people with Huntington's disease develop signs and symptoms in their 30s or
40s. But the disease may emerge earlier or later in life.
When the disease develops before age 20, the condition is called juvenile
Huntington's disease. An earlier emergence of the disease often results in a
somewhat different set of symptoms and faster disease progression.
SYMPTOMS
Huntington's disease usually causes movement, cognitive and psychiatric
disorders with a wide spectrum of signs and symptoms. Which symptoms appear
first varies greatly among affected people. During the course of the disease,
some disorders appear to be more dominant or have a greater effect on
functional ability.
Movement disorders
The movement disorders associated with Huntington's disease can include both
involuntary movement problems and impairments in voluntary movements, such
as:
Cognitive disorders
Lack of impulse control that can result in outbursts, acting without thinking
and sexual promiscuity
Social withdrawal
Insomnia
Mania, which can cause elevated mood, over activity, impulsive behavior
and inflated self-esteem
Behavioral changes
Behavioral problems
Physical changes
Contracted and rigid muscles that affect gait (especially in young children)
Changes in fine motor skills that might be noticeable in skills such as
handwriting
Seizures
CAUSES
Huntington's disease is caused by an inherited defect in a single gene.
Huntington's disease is an autosomal dominant disorder, which means that a
person needs only one copy of the defective gene to develop the disorder.
With the exception of genes on the sex chromosomes, a person inherits two
copies of every gene — one copy from each parent. A parent with a defective
gene could pass along the defective copy of the gene or the healthy copy.
Each child in the family, therefore, has a 50 percent chance of inheriting the
gene that causes the genetic disorder.
The clinical depression associated with Huntington's disease may increase the
risk of suicide. Some research suggests that the greater risk of suicide occurs
before a diagnosis is made and in the middle stages of the disease when a
person has begun to lose independence.
Eventually, a person with Huntington's disease requires help with all activities of
daily living and care. Late in the disease, he or she will likely be confined to a
bed and unable to speak. However, he or she is generally able to understand
language and has an awareness of family and friends.
DIAGNOSIS
Neurological examination
The neurologist will ask you questions and conduct relatively simple tests in the
office to judge:
Motor symptoms
Reflexes
Muscle strength
Muscle tone
Coordination
Balance
Sensory symptoms
Sense of touch
Hearing
Psychiatric symptoms
Mental status
Mood
Neuropsychological testing
Memory
Reasoning
Mental agility
Language function
Spatial reasoning
Psychiatric evaluation
Emotional state
Patterns of behaviors
Quality of judgment
Coping skills
Your doctor may order brain-imaging tests for assessing the structure or function
of the brain. The imaging technologies may include magnetic resonance
imaging (MRI) or computerised tomography (CT) scans that provide detailed
images of brain structures.
These images may reveal structural changes at particular sites in the brain
affected by Huntington's disease, although these changes may not be
apparent early in the course of the disease. These tests can also be used to rule
out other conditions that may be causing symptoms.
This test can confirm the diagnosis, and it may be valuable if there's no known
family history of Huntington's disease or if no other family member's diagnosis
was confirmed with a genetic test. But the test won't provide information that
might help determinine a treatment plan.
Before undergoing such a test, the genetic counselor will explain the benefits
and drawbacks of learning test results. The genetic counselor can also answer
questions about the inheritance patterns of Huntington's disease.
A genetic test can be given to someone who has a family history of the disease
but shows no signs or symptoms. This is called predictive testing. The test result
has no treatment benefit, and it doesn't indicate when disease onset will begin
or what symptoms are likely to appear first.
Some people may elect to do the test because they find it more stressful not
knowing. Others may want to take the test before they make decisions about
having children.
Risks may include problems with insurability or future employment and the
stresses of facing a fatal disease. In principle, federal laws exist that make it
illegal to use genetic testing information to discriminate against people with
genetic diseases.
These tests are only performed after consultation with a genetic counselor.
MEDICAL MANAGEMENT
No treatments can alter the course of Huntington's disease. But medications can
lessen some symptoms of movement and psychiatric disorders. And multiple
interventions can help a person adapt to changes in his or her abilities for a
certain amount of time.
Side effects of levetiracetam include nausea, stomach upset and mood swings.
Clonazepam may worsen the cognitive side effects of Huntington's disease and
cause drowsiness. It also has a high risk of dependence and abuse.
Medications for psychiatric disorders
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.
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
NURSING INTERVENTION
1. Provide emotional support for client and family.
ALS is often called Lou Gehrig's disease, after the famous baseball player who
was diagnosed with it. ALS is a type of motor neuron disease in which nerve cells
gradually break down and die.
Doctors usually don't know why ALS occurs. Some cases are inherited.
ALS often begins with muscle twitching and weakness in a limb, or slurred
speech. Eventually, ALS affects control of the muscles needed to move, speak,
eat and breathe. There is no cure for ALS, and eventually the disease is fatal.
SYMPTOMS
Early signs and symptoms of ALS include:
ALS often starts in the hands, feet or limbs, and then spreads to other parts of
your body. As the disease advances and nerve cells are destroyed, your
muscles progressively weaken. This eventually affects chewing, swallowing,
speaking and breathing.
ALS doesn't usually affect your bowel or bladder control, your senses or your
thinking ability. It's possible to remain actively involved with your family and
friends.
CAUSES
ALS is inherited in 5 to 10 percent of cases, while the rest have no known cause.
RISK FACTORS
Environmental factors may trigger ALS. Some that may affect ALS risk include:
Smoking. Smoking is the only likely environmental risk factor for ALS. The risk
seems to be greatest for women, particularly after menopause.
Environmental toxin exposure. Some evidence suggests that exposure to
lead or other substances in the workplace or at home may be linked to
ALS. Much study has been done, but no single agent or chemical has
been consistently associated with ALS.
Military service. Recent studies indicate that people who have served in
the military are at higher risk of ALS. It's unclear exactly what about military
service may trigger the development of ALS. It may include exposure to
certain metals or chemicals, traumatic injuries, viral infections, and intense
exertion.
COMPLICATIONS
As the disease progresses, people with ALS experience complications, which
may include:
Breathing problems
Over time, ALS paralyzes the muscles you use to breathe. You may need a
device to help you breathe at night, similar to what someone with sleep apnea
might wear. For example, you may be given continuous positive airway pressure
(CPAP) or bi-level positive airway pressure (BiPAP) to assist with your breathing at
night.
The most common cause of death for people with ALS is respiratory failure. On
average, death occurs within three to five years after symptoms begin.
Speaking problems
Most people with ALS will develop trouble speaking over time. This usually starts
as occasional, mild slurring of words, but progresses to become more severe.
Speech eventually becomes more difficult for others to understand, and people
with ALS often rely on other communication technologies to communicate.
Eating problems
People with ALS can develop malnutrition and dehydration from damage to the
muscles that control swallowing. They are also at higher risk of getting food,
liquids or saliva into the lungs, which can cause pneumonia. A feeding tube can
reduce these risks and ensure proper hydration and nutrition.
Dementia
Some people with ALS experience problems with memory and making
decisions, and some are eventually diagnosed with a form of dementia called
frontotemporal dementia
MEDICAL MANAGEMENT
Treatments can't reverse the damage of amyotrophic lateral sclerosis, but they
can slow the progression of symptoms, prevent complications and make you
more comfortable and independent.
You may need an integrated team of doctors trained in many areas and other
health care professionals to provide your care. This may prolong your survival
and improve your quality of life.
Your team will help you select the right treatments for you. You always have the
right to choose or refuse any of the treatments suggested.
Medications
Two medications are currently approved by the Food and Drug Administration
for the treatment of ALS.
Edaravone contains sodium bisulfite, which may cause serious allergic reactions
in people with sulfite sensitivity.
Your doctor may also prescribe medications to provide relief from other
symptoms, including:
NURSING MANAGEMENT
PHYSICAL
1. Assessment
o Assess motor strength; presence of spasticity of flaccidity.
o Assess for presence of contracture.
o Assess skin daily, especially those areas susceptible to breakdown.
2. Common Nursing Diagnoses
o Potential for injury related to impaired physical mobility.
o Knowledge deficit regarding prevention of injury while promoting mobility and
self-care.
o Alteration in comfort.
3. Management
o Promotion of activity and exercise.
Encourage continuation of daily routines and activities.
Maintain exercise program to tone and strengthen unaffected muscle groups
without fatiguing affected muscles.
Range-of-Motion (ROM) exercises to prevent contracture and pain in joints; first
Active ROM, then passive. Refer to physical therapist for exercise program and
see recommended passive range of motion description in Managing ALS (MALS)
Manual II.
When weakness in the extremities begins to compromise mobility, safety, or
independence in ADL, refer to a physical or occupational therapist.
o Promotion of proper positioning to prevent decubitus ulcers
Use as many different positions as possible when in bed. Change positions every
two hours, or on skin tolerance. After each change of position, check for redness
over bony
prominences, and provide an eggshell or circulating mattress when immobility
prevents independent repositioning.
Repositioning in the wheelchair based on the patient’s skin tolerance. Use of a
wheelchair cushion to prevent skin breakdown.
Proper positioning when ambulating or in a wheelchair, i.e., use of a sling for a
weak upper extremity.
Promote adequate nutritional intake.
II. Urinary Function
1. Assessment
o Assess urination pattern and patterns of fluid intake.
o Assess ability to transfer to toilet or commode, or standing ability for a male.
o Assess for signs and symptoms of urinary tract infection; frequency, urgency,
painful urination, fever, etc. (urinary tract infections are rare in ALS).
2. Common Nursing Diagnoses
o 1. Impaired urinary elimination related to:
Progressive loss of mobility
Dehydration
1. Management
o Encourage daily fluid intake of 2,500cc’s per day unless contraindicated
because of swallowing ability.
o Consult physician if there are signs of urinary tract infection.
III. Altered Bowel Function
1. Assessment
o Assess bowel pattern (for constipation, diarrhea, impaction.
o Assess diet, fluid intake, and swallowing ability.
o Assess activity level.
2. Common Nursing Diagnoses
o Impaired bowel elimination.
o Progressive loss of mobility.
o Progressive decline of dietary fiber.
o Often mile/moderate dehydration.
o Progressive inability of the trunk muscles to support a normal posture to assist in
defecation.
3. C. Management – ideally focused on preventative measures. Unlike a neurogenic
bowel, person with ALS have slowed bowel motility.
1. Encourage patient to keep daily record of bowel movements (include
consistency and amount), particularly if there has been change to a more
constipated or less frequent stool.
2. Encourage daily fluid intake of 2,500cc’s per day unless contraindicated
because of swallowing ability.
3. Provide dietary instruction regarding the importance of fiber, use of bran
cereals, prune juices, etc., unless contraindicated because of swallowing ability.
4. Daily use of stool softeners and Metamucil are often recommended. Laxatives
may be used, but chronic use may be harsh on the bowel. Mineral oil should not
be used because of the danger of aspiration.
5. As mobility progresses and/or diet and fluid intake is altered, a more aggressive
bowel program may be indicated, daily or every other day.
NUTRITION
I. Nutritional Needs
A. Assessment
1. Anthropometric Measures:
a) Height
b) Pre-morbid “usual” weight
c) Current Weight
d) Weight gain/loss pattern since onset of disease
e) “Ideal body weight”
2. Laboratory Test – indicated if patient has lost ten percent or more of body
weight in the last two months or weighs fifteen percent or more below “ideal
body weight”.
RESPIRATORY
A. Assessment
1. History: subjective symptoms (starving for air, shortness of breath and relation
to position changes, fatigue).
2. Assess: changes from baseline respiratory rate, depth, pattern, chest
expansion; adequacy of respiratory exchange and effort; retraction of
intercostals spaces; abdominal breathing; diaphragmatic breathing; nasal
flaring and use of cervical accessory muscles of respiration; color (cyanosis);
cough, gag, and swallow reflexes.
3. Auscultate: decreased breath sounds, presence of extra or adventitious
sounds (i.e., sales, wheezes).
B. Common Nursing Diagnoses
1. Ineffective airway clearances related to:
a) Impaired/absent gag reflex.
b) Impaired/absent swallowing reflex.
c) Impaired/absent cough/sneeze reflex.
2. Impaired gas exchange related to:
a) Aspiration secondary to impaired/absent gag, swallowing and cough/sneeze
reflexes.
b) Atelectasis secondary to impaired cough/sneeze reflexes and/or
hypoventilation.
c) Ineffective breathing pattern.
3. Knowledge deficit regarding:
a) Airway clearance and gas exchange.
b) Considerations regarding mechanical life supports.
C. Management
1. Maintain airway patency
a) Use of aspirator to suction secretions and prevent choking.
b) Use of medications (i.e., Elvail – 25 mg t.i.d. or 25-75 mg. at hs to reduce
secretions).
c) If the patient has a tracheostomy, suctioning and “trach care” should be
done prn to prevent buildup of secretions, possible obstruction and infection.
2. Maintain adequate ventilation
a) Deep breathing and coughing exercises and use of incentive spirometer to
encourage lung expansion.
b) Chest physiotherapy: percussion, assisted cough and postural drainage when
indicated.
c) Oxygen, when ordered.
d) Elevation of the head of the bed with a foam wedge or hospital bed to ease
shortness of breath and provide comfort during sleep.
e) When air hunger is chronic and distressing, help monitor and titrate
medications that will help provide comfort.
3. Provide information and opportunities to discuss options for mechanical
ventilation. Generally, if there are early signs of dysphagia, dyspnea, or after the
patient has had time to adjust to his diagnosis, the patient and family should be
assisted in considering options regarding life support systems. The important
thing to remember is the patient should be thinking about these decisions
before he/she needs them.
COMMUNICATION
A. Assessment
1. Assess volume and clarity of speech. 2. Assess ability to communicate needs
to family/significant others.
B. Common Nursing Diagnoses
1. Impaired verbal communications related to:
a) Altered volume of speech.
b) Altered clarity of speech (dysarthia).
c) Loss of speech.
C. Management
1. With dysarthria or with total loss of speech and no use of upper extremities.
2. There are a variety of alternative modes of communication.
3. Refer to a speech pathologist for evaluation and intervention.
PSYCHOLOGICAL ADAPTATION
A. Assessment
1. Evaluate the patient and family’s support systems and coping patterns with
awareness that with ongoing loss of independence, there will be ongoing
grieving by patient and family.
B. Common Nursing Diagnoses
1. Ineffective coping strategies
2. Knowledge deficit regarding alternatives for mobility and comfort.
3. Impaired support system.
C. Management
1. Provide an accepting environment in which the patient and family can share
concerns and fears with each other and members of the health care team.
2. Help the patient and family anticipate care needs and implications.
3. Anticipate and support emotional responses to loss as a normal reaction, thus
enabling the family to take in information and cope more effectively with
practical decision-making.
4. Provide encouragement and anticipate unasked questions.
5. Encourage realistic expectations of the disease whenever possible.
6. Refer, if needed, to a counselor, psychiatrist, psychologist or psychiatric
clinical nurse specialist.
7. Refer to an ALS support group if available.
ARELLANO UNIVERSITY
College of Nursing
HUNTINGTON’S DISEASE
&
AMYOTROPHIC LATERAL
SCLEROSIS/LOU GEHRG’S
DISEASE
Submitted by:
Denise M. Espinosa
BSNIII-OS
Submitted to: