Quick easy summary about Huntington's disease

1. NAME: DR SOLANKE ANDREW OLUSEGUN
TOPIC: HUNTINGTON’S DISEASE

2. Huntington's disease is an inherited disease of the brain that damages certain brain
cells. The disease damages some of the nerve cells in the brain, causing deterioration and
gradual loss of function of these areas of the brain. This can affect movement, cognition
(perception, awareness, thinking, judgement) and behaviour.
Early symptoms can include personality changes, mood swings and unusual behaviour,
although these are often overlooked and attributed to something else.
Huntington's disease is an inherited disease that causes the progressive breakdown
(degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a
person's functional abilities and usually results in movement, thinking (cognitive) and
psychiatric disorders. Most people with Huntington's disease develop signs and symptoms in
their 40s or 50s, but the onset of disease may be earlier or later in life. When disease onset
begins before age 20, the condition is called juvenile Huntington's disease. Earlier onset often
results in a somewhat different presentation of symptoms and faster disease progression.
Medications are available to help manage the symptoms of Huntington's disease, but
treatments can't prevent the physical, mental and behavioral decline associated with the
condition.
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 Huntington 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.

3. SYMPTOMS
1. Movement disorders
• The movement disorders associated with Huntington's disease can include both involuntary
movements and impairments in voluntary movements:
• Involuntary jerking or writhing movements (chorea)
• Involuntary, sustained contracture of muscles (dystonia)
• Muscle rigidity
• Slow, uncoordinated fine movements
• Slow or abnormal eye movements
• Impaired gait, posture and balance
• Difficulty with the physical production of speech
• Difficulty 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.
2. Cognitive disorders
• Difficulty planning, organizing and prioritizing tasks
• Inability to start a task or conversation
• 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
• Problems with spatial perception that can result in falls, clumsiness or accidents
• Lack of awareness of one's own behaviors and abilities
• Difficulty focusing on a task for long periods
• Slowness in processing thoughts or "finding" words
• Difficulty in learning new information

4. 3. Psychiatric disorders
Instead, depression appears to occur because of injury to the brain and subsequent changes in
brain function. Signs and symptoms may include:
• Feelings of sadness or unhappiness
• Loss of interest in normal activities
• Social withdrawal
• Insomnia or excessive sleeping
• Fatigue, tiredness and loss of energy
• Feelings of worthlessness or guilt
• Indecisiveness, distractibility and decreased concentration
• Frequent thoughts of death, dying or suicide
• Changes in appetite
• Reduced sex drive
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, or alternating episodes of depression and mania
Other changes in mood or personality, but not necessarily specific psychiatric disorders, may
include:
• Irritability
• Apathy
• Anxiety
• Sexual inhibition or inappropriate sexual behaviors

5. Symptoms of juvenile Huntington's disease
The onset and progression of Huntington's disease in younger people may be slightly different from
that in adults. Problems that often present themselves early in the course of the disease include:
• Loss of previously learned academic or physical skills
• Rapid, significant drop in overall school performance
• Behavioral problems
• 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
• Tremors or slight involuntary movements
• Seizures
Risk factors
If one of your parents has Huntington's disease, you have a 50 percent chance of developing the
disease. In rare cases, you may develop Huntington's disease without having a family history of the
condition. Such an occurrence may be the result of a genetic mutation that happened during your
father's sperm development.

6. Tests and diagnosis
1. Neurological examination
• Reflexes
• Muscle strength
• Muscle tone
• Sense of touch
• Vision and eye movement
• Hearing
• Coordination
• Balance
• Mental status
• Mood
2. Psychiatric evaluation
• Emotional state
• Patterns of behaviors
• Quality of judgment
• Coping skills
• Signs of disordered thinking
• Evidence of substance abuse

7. 3. Brain imaging and function
assessing the structure or function of the brain. These may include:
• Brain-imaging tests. 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. The imaging technologies may include MRI, which can produce
detailed cross-sectional and 3-D images of the brain, or CT, which produces cross-sectional
images.
• Electroencephalogram (EEG). Your doctor may order an EEG if you have experienced any
seizures. The EEG uses a series of electrodes affixed to the scalp to record the electrical
activity of the brain. Certain abnormal patterns in this activity may indicate problems likely
to contribute to seizures.
COMPLICATIONS
• Pneumonia or other infections
• Injuries related to falls
• Complications related to the inability to swallow
• increase the risk of suicide

8. Treating Huntington's disease
There is no cure for Huntington's disease. Its progress cannot be reversed or slowed down,
although this is the goal of a number of research projects. However, some symptoms can be
managed with medication and therapies, which may be co-ordinated by specialist teams.
1. Therapies (such as speech and language therapy and occupational therapy) can help with
communication and day-to-day living.
2. Regular exercise is also extremely important: people who keep active tend to feel much
better physically and mentally than those who do not exercise. Co-ordination may be
poor, but walking independently with the use of walking aids, if necessary, can make all
the difference.
Medication for Huntington's disease Medications for psychiatric disorders
Medications to treat psychiatric disorders will vary depending on the disorders and symptoms.
Possible treatments include the following:
1. Antidepressants include such drugs as escitalopram (Lexapro), fluoxetine (Prozac,
Sarafem) and sertraline (Zoloft). These drugs may also have some effect on treating
obsessive-compulsive disorder. Side effects may include nausea, diarrhea, insomnia, and
sexual problems.
2. Antipsychotic drugs may suppress violent outbursts, agitation and other symptoms of
mood disorders or psychosis.
3. Mood-stabilizing drugs that can help prevent the highs and lows associated with bipolar
disorder include lithium (Lithobid) and anticonvulsants, such as valproic acid (Depakene),
divalproex (Depakote) and lamotrigine (Lamictal). Common side effects include weight
gain, tremor and gastrointestinal problems. Periodic blood tests are required for lithium
use because it can cause thyroid and kidney problems.

9. Medications for movement disorders
Drugs to treat movement disorders include:
• Tetrabenazine (Xenazine) is specifically approved by the Food and Drug Administration
to suppress the involuntary jerking and writhing movements associated with
Huntington's disease (chorea). A serious side effect is the risk of worsening or
triggering depression or other psychiatric conditions. Other possible side effects
include insomnia, drowsiness, nausea and restlessness.
• Antipsychotic drugs, such as haloperidol (Haldol) and clozapine (Clozaril), have a side
effect of suppressing movements. Therefore, they may be beneficial in treating chorea.
These drugs may, however, worsen involuntary contractions (dystonia) and muscle
rigidity.
• Other medications that may help suppress chorea, dystonia and muscle rigidity
include antiseizure drugs such as clonazepam (Klonopin) and antianxiety drugs such as
diazepam (Valium). These medications can significantly alter consciousness, and they
have a high risk of dependence and abuse.
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.

10. 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
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.