Huntington’s Disease – Things one should know about!

Huntington’s Disease (HD) is a fatal genetic disorder in which the brain cells of the patient keeps deteriorating with time. It has no known cure and affects a person mentally as well as physically. People with HD, usually start showing symptoms in their prime age, by 30 or 40, but they can also start before that. If the disease emerges before 20 years of age, its called a juvenile Huntington’s disease. In this case, the symptoms are somewhat different and the disease progression is fast.

Currently, there are 30,000 Americans already living with this disease and another 200,000 at the risk of inheriting it.

Cause
Huntington’s disease is a genetic disease. It is caused by the mutation of the HTT gene. HTT genes are responsible for the production of a protein called huntingtin. This protein plays a very important role in the functions of our nerve cells.

The mutation causes the production of a different kind of huntingtin protein which gets broken down into smaller, toxic fragments. These fragment gets accumulated in the neurons, disrupting their functionality.

Stages of Huntington’s disease
Early stage
This stage includes the first onset of symptoms. Involuntary movement, difficulty in reasoning and depression are signs of the early stage. These symptoms can be controlled by medication but the disease progresses.

Middle stage
In the middle stage, loss of motor control is very evident. Therapists are needed to help with reasoning abilities and movement. Speech therapy also becomes necessary.

Late stage
In the late stage, the individual is totally dependent on others for every need. The person can no longer walk and cannot speak. Choking is another major concern in this stage.

Symptoms and tests
The symptoms are very similar to that of other brain diseases. The symptoms usually start appearing in the prime years and worsen in a span of 15 to 20 years. Some of the symptoms that can be spotted are stated below.

Symptoms

  • Mood swings, change in personality or depression
  • Memory loss
  • Irritability
  • Involuntary movement
  • Restlessness

Tests
There are both neurological and psychological tests to determine Huntington disease. A brain scan is sometimes used to determine if there is any degeneration of the nerve cells. It is always confirmed by genetic testing. The genetic test can be done only with the consent of the individual. It involves taking a certain amount of blood and seeing if the genes that cause Huntington’s disease is present or not. Genetic counseling is always advised before taking the test.

Treatment
There is no known treatment that can cure or slow down the disease. There are medications available to suppress the symptoms but they have side effects and most people avoid these medications.

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