What is HD?

Huntington’s disease is a brain disorder caused by a mutation that expands the size of the CAG repeat in the huntingtin gene. This mutated huntingtin gene causes nerve cells in particular areas of the brain to gradually die off, affecting both the mind and the body. Symptoms of HD usually first appear in people between the ages of 30 and 50, and progress to become more serious over time.

What are the symptoms?

HD affects the body, causing movement problems such as clumsiness, poor balance, involuntary gestures and, later on, difficulty with speaking and swallowing. It can affect cognition, such as the ability to understand and retain information. People with HD may become forgetful and have problems concentrating and making decisions. HD can also cause mood problems such as depression, anger, and irritability. Different people get different symptoms, even within the same family, and the problems may change over time. HD usually gets worse over a period of 10 to 25 years and is eventually fatal.

Who gets HD?

Both men and women and people of any racial or ethnic background can get HD, although it is more common among those with a European background. It can’t be ‘caught’ or transmitted by person-to-person contact because it is caused by a mutated huntingtin gene. Almost everyone with HD inherited the faulty gene from a parent, although in very rare cases the gene mutation occurs in a person who has no family background of the disease. People who get HD are born with the mutated huntingtin gene but it usually doesn’t cause signs or symptoms until adulthood for reasons that we don’t yet fully understand.

How do I know whether I am at risk?

If one of your parents has or had HD, you have a 50-50 chance of inheriting the gene. A genetic test can tell you whether or not you carry the gene, but it cannot tell you when you will develop symptoms.

How is it treated?

Currently, there are no medications that can prevent or slow the progression of the disease. However, some medicines and other therapies can help with some of the signs and symptoms of HD, so it is important to be treated by a doctor who has experience treating people with HD. The aim of Enroll-HD is to speed up the progress of research so that new, more effective treatments will be available as soon as possible and that care for HD patients is improved.