At Huntington's Victoria, we get asked lots of questions. No question is ever considered trivial and we will always provide you with an honest answer in the most sensitive way that we can.
We thought it would be helpful to list the answers to some of the most frequently asked questions, If your answer isn't found here please feel free to Contact Us or Ask a Question.
Q: What is Huntington's disease?
A: Huntington's disease is a genetic neurodegenerative disease which affects the brain. People with HD may experience involuntary movements (chorea), reduced intellectual abilities, and may experience behavioural and personality changes. HD affects the brain in two particular areas; the basal ganglia which controls and coordinates body movements and the cerebral cortex which is responsible for processes such as thoughts, emotions, perceptions and planning.
Q: What causes HD?
A: HD is caused by a defective gene located on chromosome 4. Everyone has the Huntingtin gene; however people who develop HD have an expansion of a particular region of the gene, called the CAG repeat region. When this region has more than 40 repeats of the CAG sequence, it leads to the production of damaged Huntingtin protein which leads to the damage of nerve cells in the brain. The expansion of the CAG repeat region in the gene is passed on by one parent who has the defective gene. If your parent does not have the defective gene then you can't inherit it.
Q: Can HD skip a generation?
A: Every child of a parent who carries the defective gene has a 50% chance of inheriting the gene. If your parent does not have the defective gene then you are not at risk of developing HD or of passing it on.
Q: There is a history of HD in the family. What does this mean for me?
A: Huntington's disease is an inherited neurological condition which is passed down from parent to child. This means that if you have a parent with the defective gene then you have a 50% risk of inheriting the defective gene yourself. If neither of your parents have HD then you are not at risk of inheriting the defective gene.
Q: What is Predictive testing?
A: In 1993 the Huntingtin gene was discovered which allowed for the development of a direct gene test. This means that you can find out whether you have the gene before the onset of symptoms. The predictive test identifies if the HD gene you inherited from your parent is faulty.
Q: I am at risk of HD. Should I be gene tested?
A: There is no right or wrong answer to this question. Making the decision to be tested is very difficult and not one to rush into. We recommend that you contact the Predictive Testing Program at the Murdoch Institute to discuss this decision in greater length. They can be contacted on 8341 6200.
Q: I am currently at risk of HD and would like to know my gene status. Who should I speak to about this and what can I expect from the process?
A: If you are at risk of HD and would like to find out if you are gene positive then you will need to contact the Predictive testing program at the Murdoch institute on 8341 6200. As part of this process you will engage in some counselling sessions with a genetic counsellor. They will be able to provide you with further information on the program.
Q: I have a grandparent with HD and my mother/father does not know their gene status. Can I still be tested even if they don't know their gene status?
A: The answer is yes, however it best to talk to the genetic counsellor at the predictive testing program about this as your gene status will have implications for your parent, particularly if you are found to be gene positive.
Q: I want to start a family but am at risk of HD. Can I still have children without passing on the gene and not know my gene status?
A: The development of IVF this allows you to conceive a child without the defective HD gene and not disclose your own gene status. For further information contact Melbourne IVF on 9473 4456 or the IVF clinic at Monash Medical Centre on 9543 2833
Q: I have tested gene positive. When can I expect to develop symptoms of HD?
A: It is impossible to predict exactly when you will develop symptoms. However, most people begin to show signs of HD between the ages of 35yrs – 55yrs. Maintaining an active lifestyle that includes regular exercise and mental stimulation has been shown to delay the onset of symptoms.
Q: If I am gene positive what does that mean for my children?
A: This means that each one of your children has a 50% chance of inheriting the defective HD gene.
Q: I have heard Huntington's disease is more prevalent in males. Is this true?
A: This is incorrect as the HD gene is on chromosome 4 which is a non-sex chromosome. You may come across the term 'autosomal' which means any of the chromosomes 1-22 (we all have 22 pairs of autosomal chromosomes plus chromosome 23 which determines our gender).
Q: What is the prevalence of HD in the western world?
A: Statistics now indicate that 8 in every 100,000 have HD.
Q: What is Juvenile HD?
A: Juvenile HD affects people under the age of 20 years and like the adult form is hereditary in nature. It occurs when the CAG repeat is expanded to over 60 repeats. Juvenile HD accounts for 3-10% of all HD cases in the western world. See our section on Juvenile HD
Q: What is the predicted lifespan for someone with HD?
A: As HD is a neurodegenerative condition people typically live for 15-25yrs following the onset of symptoms. It is difficult to determine when onset of symptoms occurs as symptoms may be gradual and subtle changes.
Q: Is there medication available to assist with my symptoms?
A: Yes, there is medication available to assist with managing symptoms of HD. Please see your health professionals for further information.
Q: Is there a cure for HD?
A: At the moment in 2008 there is not a cure for HD. However a cure is being heavily researched both in Australia and internationally.
Q: Can the progression of HD be slowed?
A: Medication cannot slow the progression of HD, however maintaining an active lifestyle (e.g. regular exercise and mental stimulation) has shown through research to have a positive impact on the progression of HD. Read our fact sheet on Staying Active with HD
Q: Now that I am diagnosed does this mean I will lose my drivers licence?
A: Not necessarily, however you will have to inform VIC Roads that you have a neurodegenerative condition. At some stage you may require an Occupational Therapist Driving Assessment.
Q: Is it common for GPs to have trouble recognising the symptoms of HD?
A: As HD is a rare condition, your GP may not have come across this before. Unless HD is known in your family, this is not something GPs would routinely look for as there can often be other explanations for your symptoms other than HD. You should always tell your GP of any family history relating to HD.
Q: I'm a carer, is it normal for me to feel guilty or angry?
A: It is normal to have feelings of guilt at various times and it is helpful to talk to a professional about these feelings. Contact us.
Q: Am I experiencing grief and loss?
A: Grief and loss does not only apply to bereavement but also to the changes in relationships within a family. You may experience any of the following feelings; denial, anger, depression, resentment, sadness, and numbness. These feelings are normal and could be explained by the changing dynamics within the family. Huntington's Victoria can put you in contact with support you need. Contact us or read more about Grief and Loss.
Q: Should I ask for help?
A: Asking for help can be difficult and you shouldn't feel ashamed for doing so. Everyone at times needs help, whether it is someone to talk to or for respite. Huntington's Victoria have a wide range of services to offer and you shouldn't feel alone.
Contact Us or Ask a Question.