The Facts

Huntington's disease, also called Huntington's chorea, is a hereditary condition that affects the brain, specifically an area called the basal ganglia (located deep in the brain).

The disease follows an autosomal dominant pattern of inheritance, meaning that if one parent has the disease, each child has a 50% chance of inheriting it. Huntington's disease is quite rare, occurring in about 2.7 in 100,000 people worldwide; 5.7 per 100,000 in Europe, North America, and Australia; and 0.4 per 100,000 in Asia. Both males and females are affected equally.




Symptoms and Complications




Eventually, people with this disease are unable to look after themselves and need help with daily activities and functions such as eating, hygiene, and toileting. People tend to become bedridden and may suffer complications such as congestive heart failure and pneumonia. People diagnosed with adult-onset Huntington’s disease usually live about 10 to 20 years after diagnosis.

Making the Diagnosis

During a physical exam, a doctor will look for irregular and uncontrolled movements and signs of muscle deterioration or reduced mental or intellectual function. A family history of the disease will help diagnose Huntington's disease, and DNA analysis will detect genetic defects.

Other possible tests include computed topography (CT) or magnetic resonance imaging (MRI) scans to look for areas of the brain (caudate nucleus) that may have atrophied (decreased in size).

Treatment and Prevention

Because there is no cure for this disease, treatment aims to lessen the severity of symptoms and make people comfortable. Medications are usually given to help control abnormal muscle movements, including tranquilizers, benzodiazepines, neuroleptics, and medications that work on the nervous system such as tetrabenazine*. Antidepressants may be used to treat depression, if present. Psychosis and behavioural problems can be treated with a class of drugs known as antipsychotics.

Because of the delayed onset of symptoms, the disease can be transmitted to children before you even know you have it. If you have a family history of Huntington's disease, you may want to consider genetic testing before deciding to have children. An experienced genetic counsellor can help guide you through the many complex issues involved in making the best decision for you.
