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What are the major effects of the disease? How is HD Inherited? At what age does HD appear? The disease, which gets worse over time, attacks motor control regions of the brain those involved with movementas well as other areas. People with HD develop problems with behavior, emotion, thinking, and personality, along with uncontrollable dance-like movements called chorea and abnormal body postures. The gene mutation that causes HD is present from birth.

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As many as 90 percent of individuals who have a parent with Huntington's disease HD choose not to take a gene test that reveals if they will also develop the fatal disorder -- and a new study details the reasons why. Understanding the "why" matters as new clinical trials testing therapies for people who haven't yet developed symptoms of Huntington disease requires participants to be tested for the HD gene to be included in the trials.

Test to find out if you'll get huntington's disease

The study, published today in Clinical Geneticsalso suggests that individuals who have chosen not to be tested can benefit from supportive counseling, which is not usually offered. She says, "For those who want testing and are ready to cope with the result, either positive or negative, it is our duty to help them get this information so they can make decisions about future care, financial planning and, possibly, study participation.

Huntington's disease is caused by an inherited defect in a single gene. Inheritance is autosomal dominant: only one copy of a mutated HD gene is needed to pass on the disorder, thus the chance of inheritance is 50 percent. A person inherits two copies of every gene, one from each parent.

A parent with a defective gene can pass on either a mutant or healthy HD gene. The disease produces progressive degeneration of nerve cells in the brain, which affects the ability to move and think, and often in depression and other psychiatric disorders due to functional changes in the brain.

To date, there is no cure for the disease and no way to prevent its onset. It is always fatal.

People who have the HD genetic mutation expansion will develop HD unless they die of other causes before it develops. Anderson says there are effective treatments for the symptoms, and a "pipeline" of drugs that may alter the course of the disease are now in clinical testing. Among them are gene silencing techniques that may lower the level of abnormal protein that is produced by the HD gene.

The age at which a person with the HD genetic mutation develops the disorder depends on the of times a coding mistake in the gene is repeated. Symptoms in adults can begin as early as age 20, or, more likely, in mid-life, ages Onset after age 80 has been reported.

Once they begin, symptoms worsen over years until death. The HD gene that causes the disease was isolated in and a predictive gene test quickly followed. Studies have been conducted on why people choose to take the gene test, but only one large study has been done on why people don't -- the subject of the Clinical Genetics publication. This study included potential HD mutation carriers who had chosen not to learn their HD status. Data from a subset of of these subjects were used in the current report by Anderson and others.

Huntington disease

The two primary reasons why participants did not want to know their risk was because they felt no effective cure or treatment exists and their inability to undo the knowledge they learned from the test. Only about percent of people who know they are at risk for HD have been tested since the test became available, and that percentage really hasn't changed much over time.

This study shows there are important, relevant reasons why people don't want to be tested," she says. As part of the PHAROS study, participants gave permission for gene analysis with the understanding that they would not be told the. Helping to understand why people chose not to test makes it easier for physicians and genetic counselors to broach the subject with individuals at risk, especially if they are considering a clinical trial, she says. Now we know factors people cite for why they don't want to know their status," says Anderson.

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It tells us that we should understand, and respect, decisions not to have that testing," she says. Currently there are about 30, Americans who are symptomatic, and more thanwho are at risk of developing the disease, according to the Huntington's Disease Society of America.

Materials provided by Georgetown University Medical Center. Note: Content may be edited for style and length.

What you need to know about huntington disease

Science News. Journal Reference : Karen E. Anderson, Shirley Eberly, Karen S. Clinical Genetics; DOI: ScienceDaily, 16 May Georgetown University Medical Center. Why adults at risk for Huntington's choose not to learn if they inherited deadly gene. Retrieved May 25, from www.

Their findings could benefit clinical trials A new scientific study reveals one way to stop proteins from triggering an ScienceDaily shares links with sites in the TrendMD network and earns revenue from third-party advertisers, where indicated. Print Share.

Huntington's disease

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