Huntington's chorea Disease

I. Definition

Huntington's disease is a progressive, degenerative disease that causes certain nerve cells in your brain to waste
away. As a result, you may experience uncontrolled movements, emotional disturbances and mental deterioration.

Huntington's disease is an inherited disease. Signs and symptoms usually develop in middle age. Younger people with
Huntington's disease often have a more severe case, and their symptoms may progress more quickly. Rarely, children
may develop Huntington's disease.

Medications are available to help manage the signs and symptoms of Huntington's disease, but treatments can't prevent
the physical and mental decline associated with the condition.

Huntington disease (HD) is an inherited brain disorder. It was named after the doctor who
First described it in 1872, George Huntington, and it used to be called Huntington’s chorea. HD causes cells in specific
parts of the brain to die: the caudate, the putamen, and, as the disease progresses, the cerebral cortex. The
caudate and putamen have connections to many other areas of the brain, and help to control body movement,
emotions, thinking, behaviour, and perception of the world.As the brain cells die, people with Huntington’s
become less able to control movements, recall recent events, make decisions, and control emotions. The disease leads
to incapacitation and, eventually, death.

II. Overview, Causes, & Risk Factors

Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG
repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. But in
persons with Huntington's disease, it is repeated 36 to 120 times.

As the gene is passed on from one generation to the next, the number of repeats - called a CAG repeat expansion - tend
to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age.
Therefore, as the disease is passed along in families, it becomes evident at younger and younger ages.

There are two forms of Huntington's disease. The most common is adult-onset Huntington's disease. Persons with this
form usually develop symptoms in their mid 30s and 40s.

An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or
adolescence. Symptoms may resemble those of Parkinson's disease with rigidity, slow movements, and tremor.

If one of your parents has Huntington's disease, you have a 50% chance of getting the gene for the disease. If you get the
gene from your parents, you will develop the disease at some point in your life, and can pass it onto your children. If you
do not get the gene from your parents, you cannot pass the gene onto your children.

III. Signs and Symptoms

The signs and symptoms of Huntington's disease can vary significantly from person to person. Huntington's disease
usually develops slowly, and the severity of signs and symptoms is related to the degree of nerve cell loss. Death occurs
about 10 to 30 years after signs and symptoms first appear. The disease progression may occur faster in younger people.

Early signs and symptoms of Huntington's disease often include:

 Personality changes, such as irritability, anger, depression or a loss of interest

 Decreased cognitive abilities, such as difficulty making decisions, learning new information, answering questions
and remembering important information
 Mild balance problems
 Clumsiness
 Involuntary facial movements, such as grimacing

Your family and friends may notice these changes before you become aware of them.

Later signs and symptoms of Huntington's disease can include:

 Sudden jerky, involuntary movements (chorea) throughout your body

  Severe problems with balance and coordination
 Jerky, rapid eye movements
 Hesitant, halting or slurred speech
 Swallowing problems
 Dementia

Young people who develop Huntington's disease may have signs and symptoms that mimic Parkinson's disease:

 Muscle rigidity
 Tremors
 Slow movements

Seizures may also occur in those with early-onset Huntington's disease.

When to see a doctor

See your doctor if you notice changes in your movements, emotional control or mental ability. These signs and
symptoms can be the result of many conditions, so they don't necessarily mean you have Huntington's disease.

If you have a family history of Huntington's disease, you may want to talk with your doctor about genetic testing that
can tell you whether or not you carry the defective gene. Deciding whether to be tested for the gene is a personal
decision. For some people, the uncertainty of whether they carry the faulty gene is stressful and distracting. For others,
the knowledge that they will develop the condition is burdensome. If you're uncertain whether testing is right for you,
consider contacting a genetic counselor who can help you understand the implications of a positive or negative test
result, walk you through the testing process, and help you weigh the pros and cons. Ask your doctor for help locating a
genetic counselor.

IV. Treatment & Drug

No satisfactory treatment is available to stop or reverse Huntington's disease. Some approaches can control signs and
symptoms, but Huntington's disease eventually causes physical and mental disability. As the disease progresses, long-
term nursing home care may be necessary.

Medications
Tetrabenazine (Xenazine) is the first medication to be specifically approved by the Food and Drug Administration for the
treatment of the signs or symptoms of Huntington's. It helps reduce the jerky, involuntary movements of Huntington's
disease by increasing the amount of dopamine available in the brain. Possible side effects include insomnia, drowsiness,
nausea and restlessness. This medication isn't recommended for use in anyone with depression, especially anyone with
suicidal thoughts.

Tranquilizers such as clonazepam (Klonopin) and antipsychotic drugs such as haloperidol and clozapine (Clozaril) can
help control movements, violent outbursts and hallucinations. While these medications can be helpful, a common side
effect is sedation, and in some cases, these medications may cause additional stiffness and rigidity.

Various medications, including fluoxetine (Prozac, Sarafem), sertraline (Zoloft) and nortriptyline (Pamelor), can help
control depression and the obsessive-compulsive rituals that some people with Huntington's disease develop.
Medications such as lithium (Eskalith, Lithobid) can help control extreme emotions and mood swings.

Side effects from many of the drugs used to treat the symptoms of Huntington's disease may include hyperexcitability,
fatigue and restlessness.

Speech therapy
Huntington's disease can impair your speech, affecting your ability to express complex thoughts. You may find that
speech therapy helps. Remind friends, family members and caregivers that if you don't speak, it doesn't necessarily
mean that you don't understand what's going on. Ask people to continue talking to you and keep your environment as
normal as possible.

Physical and occupational therapy

Physical therapy can help keep muscles stronger and more flexible, which helps maintain balance and may lessen the
risk of falling. Occupational therapy can help make your home safer and give you strategies for coping with memory and
concentration problems. Later in the disease, occupational therapy can assist you with eating, dressing and hygiene
challenges.
Experimental treatments and new research
Scientists are working to try to come up with new treatments to slow the course of Huntington's disease. One area of
research is the combination of certain cancer and AIDS drugs. This combination has halted the progress of Huntington's
in fruit flies.

The use of stem cells is another avenue for research. Transplanted in the brain, stem cells might help reduce some of the
damage that's been done to the neurons in the brain. Animal studies have shown promising results, but much more
research must occur.

In October 2008, researchers began recruiting for a randomized, placebo-controlled clinical trial of a new drug currently
known as ACR16. This medication stabilizes levels of dopamine, which may improve motor, cognitive and psychiatric
functioning.

Complications

 Loss of ability to care for self

 Loss of ability to interact
 Injury to self or others
 Increased risk of infection
 Depression
 Death

Prevention

Genetic counseling is advised if there is a family history of Huntington's disease. Experts also recommend genetic
counseling for couples with a family history of this disease who are considering having children.

V. Pathophysiology

Progressive neurodegenerative disease with selective neuronal loss – caused by an excessive repeat of the CAG nucleic
acid sequence in the gene on chromosome 4 that codes for the Huntington protein

Unclear how altered Huntington protein contributes to the specific symptoms

The protein HAP-1, which binds to the Huntington protein, possibly contributes to the pathogenesis

Usual duration from onset of symptoms to death is about 15 years

Marked by involuntary movements, progressive dementia, striking emotional changes

VI. Tests and diagnosis

During an initial evaluation, your doctor will:

 Perform a physical exam

 Ask about your medical history and your family medical history
 Ask about any recent emotional or intellectual changes

If your doctor suspects Huntington's disease, you'll likely:

 Undergo a psychiatric evaluation

 Meet with a genetic counselor to discuss the possibility of having a blood test to determine whether you have
the defective gene
If you know that one of your parents had Huntington's, ask your doctor about genetic testing. Genetic testing is
generally done in a setting where pre-test counseling and post-test support are available along with testing.

Your doctor may also suggest:

 Computerized tomography (CT)

 Magnetic resonance imaging (MRI)

These imaging tests can help your doctor identify any changes to your brain's structure and rule out other disorders.

VII. Nursing Responsibility