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What is Huntington's Disease?

Huntington's disease is a rare genetically transmitted disease. Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. Huntington's disease is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an Huntington's disease parent has a 50-50 chance of inheriting the Huntington's disease gene. If a child does not inherit the Huntington's disease gene, he or she will not develop the disease and cannot pass it to subsequent generations.

Signs and symptoms usually develop in middle age, and men and women are equally likely to develop the condition. Younger people with Huntington's disease often have a more severe case, and their symptoms may progress more quickly.

What are the Causes of Huntington's Disease?

The cause of Huntington's disease is genetic in nature. Here is the cause explained in detail: Each of us has 46 chromosomes which come in pairs, one member of the pair comes from each parent. Therefore, 23 chromosomes are from the mother, and 23 chromosomes are from the father. There are two types of chromosomes: 1) autosomal chromosomes, which are the first 22 pairs, and 2) sex chromosomes, which are the 23rd pair (the 23rd pair in females consists of two X-chromosomes, and the 23rd pair in males consists of an X-chromosome and a Y-chromosome). Since Huntington disease is autosomal dominant, this means the gene involved is on an autosomal chromosome (not one of the sex chromosomes) and recently has been localized on the fourth autosomal chromosome pair (the #4 chromosome). In affected individuals, one gene of this gene pair (the HD gene) is not functioning correctly and expresses itself more strongly, or 'dominates', the other working gene.

Huntington's disease typically begins in mid-life, between the ages of 30 and 45, though onset may occur as early as the age of 2. Children who develop the juvenile form of the disease rarely live to adulthood.

What are the symptoms of Huntington's disease?

The symptoms of Huntington's disease usually evolve slowly varying from person to person even if they belong to the same family. Some individuals may be affected first cognitively while other affect with motor skill impairment. Some of the symptoms are listed below:

  • Irritability
  • Depression
  • Anxiety
  • Aggressive outbursts
  • Mood swings
  • Social withdrawal
  • Fidgety behavior
  • Uncoordination
  • Involuntary movements (chorea, dystonia)
  • Difficulties with speech, swallowing, balance, walking

What is the prognosis for Huntington's Disease?

There is nothing that can be done for stopping the affects of Huntington's disease. At this time, there is no way to stop or reverse the course of Huntington's disease. There is no treatment to halt the progression, which leads to death after ten to twenty-five years. However, now that the HD gene has been located, investigators are continuing to study the HD gene with an eye toward understanding how it causes disease in the human body.

Is there any treatment available for Huntington's disease?

The answer is simply NO. Physicians can just prescribe a number of medications to help control emotional and movement problems associated with Huntington's disease. Most drugs used to treat the symptoms of HD have side effects such as fatigue, restlessness, or hyperexcitability. It is extremely important for people with HD to maintain physical fitness as much as possible, as individuals who exercise and keep active tend to do better than those who do not.

How does Huntington Disease affect peoples daily life,family,lifestyle,social life,education,faith,and their attitude about life? - Janessa


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