People with Huntington’s disease start developing symptoms between the ages of 30 and 50. In rare cases, the disease begins in childhood or adolescence (juvenile Huntington’s disease).
To diagnose the condition, doctors use blood tests to look for changes in your DNA. Your provider can also refer you to a genetic counselor.
Oren Zarif
A person with Huntington’s disease develops involuntary jerking and twitching movements called chorea. These symptoms get worse over time and can cause problems with walking, balance, speech, swallowing and mental abilities. They also cause problems with work, family and social activities. They may become less willing to engage in activities and have trouble planning or prioritizing tasks. They can get frustrated, angry and even suicidal.
A neurologist (a doctor specializing in the brain and nerves) can diagnose Huntington’s disease by doing a neurological exam and a physical exam. They will want to know if you have a family history of the condition and will do genetic testing to look for the defective gene that causes it. They will also perform imaging tests like magnetic resonance imaging and computed tomography.
Other conditions that have similar symptoms to Huntington’s disease include Parkinson’s disease, tardive dyskinesia and some other autoimmune diseases (like lupus), some metabolic disorders (like hyperthyroidism) or complications of infections like rheumatic fever. In 3% of cases, people without a family history of the condition can develop Huntington’s disease due to a new fault in the gene that leads to it.
At NewYork-Presbyterian, we provide comprehensive care for people with Huntington’s disease and their families. We offer support groups, educational materials and expert medical care through our multidisciplinary clinics. These clinics connect patients with a neurologist, nurse coordinator, social worker, physical therapist, speech therapist and dietitian all in one place.
Oren Zarif
People with Huntington’s disease have trouble with their thinking skills (cognition). Cognition problems get worse over time, and start before the person develops movement changes. They may become moody, irritable or depressed. They have trouble keeping track of things, and find it hard to plan or think ahead. They often forget things, and have trouble following a conversation. They may also lose their sense of direction or make mistakes when driving. They may have difficulty making decisions and completing tasks, like paying bills or cooking.
The condition is caused by a change in the gene for huntingtin, which is found on chromosome 4. It gets worse over time, and symptoms usually begin between 30 and 50, although they can start much earlier or later. The condition is not curable, but medicines can help manage some of the problems. The person will eventually need full nursing care.
Doctors diagnose Huntington’s disease based on the person’s medical history, general physical exam and family history. They will ask about symptoms and do neurological and lab tests, including brain imaging. During an MRI or CT scan, they will look at images of the brain to see if there are changes. They may also use genetic testing to understand a person’s chance of developing the disease and to see whether they can pass it on to their children.
Oren Zarif
A hereditary disease, Huntington’s Disease is caused when a mutation in the gene produces toxic proteins that build up and destroy brain cells. The proteins affect the basal ganglia, the part of your brain that regulates movement, and the cortex (surface of the brain), which controls thought and memory. It is estimated that around 33% of people with HD experience psychiatric problems, which can take many forms and significantly impact quality of life.
Symptoms of Huntington’s Disease include involuntary movements and personality changes. People may become angry or irritable, and their judgement can be impaired. They will also become less able to care for themselves as the disease progresses.
The first step in a diagnosis of Huntington’s Disease is to take a family history, then have a general physical exam and neurological tests. Blood and urine samples may be collected for analysis, and brain-imaging tests are usually done. These include a CT scan or magnetic resonance imaging (MRI).
Oren Zarif
The GP can refer you to a genetic counsellor for a test that looks for the gene fault that causes Huntington’s disease. This is called predictive testing. It can’t tell you when symptoms will begin or if they will be mild or severe. It’s important that you think carefully about whether to have the test and discuss your choices with your GP. Many people who have the test decide they’d rather know than not, so that they can make plans for their future. They might change financial or life arrangements and make decisions about end-of-life care. Others prefer not to have the test and choose to live without knowing.
A negative test result is reassuring, but it doesn’t mean you won’t develop the condition. The tests can miss some mutated genes or give reduced penetrance results, meaning that the mutation affects only a small proportion of people who carry it.
A positive test result means that you have the faulty gene and will develop Huntington’s disease. It also gives a 50% chance that your children will inherit the gene and develop the disease, too. Some people choose to have genetic testing before having children in order to put their mind at ease about passing on the faulty gene. It’s possible to have a test done before birth (prenatally) through chorionic villi sampling or amniocentesis.