Huntington's Disease

Huntington’s disease (HD) is a hereditary neurological disease with no cure. It was first described by George Huntington in 1872 and damages the nerve cells in the brain. It causes degeneration, deterioration, and gradual loss of function of areas of the brain. This will normally affect movement, cognition and behavior.

What Causes Huntington’s Disease?

A genetic code mistake on chromosome four produces a protein called Huntingtin. The defect affects the production of certain brain enzymes which are essential in making certain brain chemicals. This leads to damage to the nerve cells in certain areas of the brain as well as a build-up of dopamine.

The parent with the Huntington’s gene will have one good and one faulty copy of the gene. This leads to a 50:50 chance of a child being born with the faulty gene. If the gene is inherited from the father, it tends to be more severe.

Huntington’s Symptoms

There is no typical pattern in the symptoms. People with the disease running in their family may worry a lot about developing the disease. Symptoms can start between the ages of 20 and 30, but normally start between 30 and 50, slowly getting worse until the person dies. For those who are not aware that the disease runs in the family, early symptoms may include mood swings, bizarre behavior and personality changes.

Movement

Early symptoms include slight uncontrollable movements of the face, jerking and fidgety movements of the limbs and body. As the disease progresses, these become more frequent and extreme.

Eating can become tiring, frustrating, and messy as the mouth muscles and diaphragm muscles do not work properly due to the loss of control. Because of the extra calories needed for the constant movement, they are often underweight, muscle wasting, prone to illness and slower wound healing.

Behavior

Because of the damage happening to the brain, it may seem as if people with Huntington’s may appear not to accept the condition. They will have alternating periods of aggression, apathy, lack of initiative, and concentration.

People with the condition may appear to be stubborn, irritable, depressed and get easily frustrated.

Communication

People with Huntington’s have difficulty putting thoughts into words and slur their speech. Communication, cognition and speech are all affected by the condition. It can put a lot of strain on relationships and is very upsetting and stressful to the family.

In the later stages of the disease, the person will be totally dependent on nursing care. Death will be due to secondary causes like pneumonia and heart failure.

Treatment and Prevention

There is a lot of research being done on preventing the condition. However, there is no way to prevent it if you have inherited the defective gene. There is also no cure for the condition. Neither can its progress be reversed or slowed down.

Treatment is limited to managing the associated symptoms.

Medication is used to control mood swings and depression. Others like tetrabenazine are used to reduce the build up of dopamine to control the involuntary movements.

Communication strategies like speech and language therapy are also used to improve memory and teach alternate ways of communicating. Patience is required of the family of those afflicted by the condition.

The diet needs to be high in calories because of burning extra calories. The food should be easy to chew, swallow and digest.

In the later stages of the condition, it is important to consider additional support for the person. This can include occupational therapists, physiotherapists, and even hospices and home care.

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