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Huntington detail

Huntington's disease

Huntington's disease is a disease transmitted through families in which nerve cells in certain parts of the brain degenerate.

Causes
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, it is supposed to. Normally, this section of DNA is repeated 10 to 28 times. But in people with Huntington's disease, it is repeated 36 to 120 times.

As the gene is passed down through families, the number of repeats tend to expand. The more repetitions, the better your chances of developing symptoms at an early age. Therefore, as the disease is transmitted in families, symptoms develop at younger and younger ages.

There are two forms of Huntington's disease.

The most common is adult Huntington's disease. People with this form usually develop symptoms in their mid 30s and 40s.
An early-onset form of Huntington's disease is a small number of cases and begins in childhood or adolescence.
If one of your parents has Huntington's disease, you have a 50% chance of having the disease gene. If you get the gene from your parents, you will develop the disease at some point in your life, and can pass on to your children. If you do not get the gene from your parents, you can not pass the gene on to your children.

Symptoms
Behavioral changes may occur before the problems of movement, and may include:

Behavioral disorders
Hallucinations
Irritability
Moodiness
Restlessness or fidgeting
Paranoia
Psychosis
Abnormal and unusual movements include:

Facial movements, including grimaces
Head turn to change the position of the eyes
Fast, brutal, sometimes wild jerking movements of the arms, legs, face and other body parts
Slow, uncontrolled movements
Unsteady gait
Dementia that slowly gets worse, including:

Disorientation or confusion
Loss of judgment
Loss of memory
Personality changes
Speech changes
Other symptoms may be associated with this disease:

Anxiety, stress and tension
Difficulty swallowing
Diction
Symptoms in children:

The rigidity
The slow movements
Dither

Exams and Tests
The doctor will perform a physical examination and may ask questions about the history of the patient's family and symptoms. A neurological exam will also be done. The doctor can see signs of:

Dementia
Abnormal movements
Abnormal reflexes
"Prancing" and wide driveway
Hesitant speech or poor enunciation
A scanner head may show loss of brain tissue, particularly deep in the brain.

Other tests may show signs of Huntington's disease include:

Head MRI
PET (isotope) scan of the brain
Genetic tests are available to determine whether a person carries the gene for Huntington's disease.

Treatment
There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the symptoms and help the person to work as long and as comfortably as possible.

Drugs vary according to symptoms.

Dopamine blockers may help reduce abnormal behaviors and movements.
Drugs such as amantadine and tetrabenazine are used to try to control extra movements.
There was some evidence to suggest that coenzyme Q10 may also help slow the progression of the disease, but it is not conclusive.
Depression and suicide are common in people with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor the symptoms and treat them accordingly.

As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care.

Prognosis
Huntington's disease causes disability that gets worse over time. People with this disease usually die within 15 to 20 years. The cause of death is often infection, although suicide is also common.

It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms. People with few repeats may have mild abnormal movements later in life and slow progression of the disease, while those with a large number of repetitions can be seriously affected at a young age.

Possible complications
Loss of ability to take care of yourself
Loss of the ability to interact
Injury to self or others
Increased risk of infection
Trough
Death

When to contact a medical professional
Call your doctor if you develop symptoms of this disorder.

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 the disease who are considering having children.

Alternative Names
Huntington's Chorea

 

 

 

source http://dictionnairemedical.net

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