I have a family history of Huntington's disease. My mother was diagnosed with it about 5 years ago. I just needed to know some information about where I can get tested. Also, how early can they start treatment if I am diagnosed with it? I'm only 21 years old. I just thought that maybe the sooner they start the better.
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What is Huntington disease?
is a progressive disorder that causes brain cell (neuron) degeneration in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Symptoms typically appear between the ages of 35 and 44 years. People with Huntington disease most often live for 15 to 18 years after the condition appears. Huntington disease caused by mutations
in the HTT gene
and is inherited in an autosomal dominant
manner. Each child of a person with Huntington disease has a 50 percent (1 in 2) chance of inheriting the mutation.
There is also a less common, early-onset from that begins in childhood or adolescence, called juvenile Huntington disease
Last updated: 6/27/2011
How is Huntington disease diagnosed?
The diagnosis of Huntington disease is suspected clinically in the presence of the following:
Progressive motor disability featuring chorea; voluntary movement may also be affected
Mental disturbances including cognitive decline, changes in personality, and/or depression
Family history consistent with autosomal dominant inheritance
The diagnosis of Huntington disease can be confirmed through molecular genetic testing which identifies an expansion
in the HD gene
. A gene expansion means that the gene becomes longer as more nucleotides (the material that makes up our genes) are added. When the additional nucleotides come in sets of 3 we call them trinucleotide repeats
. Huntington disease is caused by 36 or more trinucleotide repeats in the HD gene.
Last updated: 2/25/2010
How is Huntington disease inherited?
Huntington disease is inherited in an autosomal dominant
manner. This means that one copy of the altered gene in each cell is sufficient to cause the disorder. Click here to learn more about autosomal dominant inheritance.
Last updated: 2/25/2010
Is genetic testing for Huntington disease available?
Testing of adults at risk for Huntington disease who have no symptoms (asymptomatic) of the disease has been available for over ten years. This type of testing is called predictive testing
. Predictive testing
requires careful thought, including pretest and post-test genetic counseling
. This is particularly important as there is currently no cure for Huntington disease. It is also important to understand that this testing is not useful in accurately predicting the age a person found to carry a Huntington disease causing mutation will begin experiencing symptoms, the severity or type of symptoms they will experience, or rate of disease progression. However, data reported in 2004 concerning the likelihood that an individual with a particular size of trinucleotide repeats
will be affected
by a specific age may be useful.
The Pacific Northwest Regional Genetics Group (PacNoRGG) has published a guide that can help people consider the issues around testing for HD entitled, "Testing for Huntington Disease: Making an Informed Choice"
Last updated: 2/25/2010
Why might an at-risk asymptomatic adult seek testing for Huntington disease?
At-risk asymptomatic adult family members may seek testing in order to make personal decisions regarding reproduction, financial matters, and career planning. Others may have different motivations including simply the 'need to know.' Testing of asymptomatic at-risk adult family members usually involves pretest interviews in which the motives for requesting the test, the individual's knowledge of Huntington disease, the possible impact of positive and negative test results, and neurologic status are assessed. Those seeking testing should be counseled about possible problems that they may encounter with regard to health, life, and disability insurance coverage, employment and educational discrimination, and changes in social and family interaction. Informed consent
should be obtained and records kept confidential. Individuals who are found to carry a Huntington disease causing gene mutation need arrangements for long-term follow-up and evaluations.
Last updated: 10/9/2008
How might Huntington disease be treated? Can it be cured?
Scientists are trying to understand what the gene mutation actually does to structures in the brain and how it affects the rest of the body. Therefore, there is no cure for Huntington disease and there is still no known way to stop the disease from getting worse. The goal of treatment is to slow down the course of the disease and help the person function for as long and as comfortably as possible.
The Huntington Disease Society of America (HDSA) Centers of Excellence for Family Services Program helps to create regional Centers that offer clinical care and services for individuals affected by HD and their families. HDSA Centers of Excellence provide comprehensive services through a multidisciplinary health care team. To find a center in your area, you can contact the HDSA organization at (800) 345-HDSA (4372) or click here
to go directly to their Web site.
Caregivers for individuals with Huntington disease can find a list of resources on the HDSA Web site at the following link:http://www.hdsa.org/living-with-huntingtons/family-care/caregivers.html
Last updated: 3/2/2010