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 4.9 per 100,000 people worldwide; 6.4 per 100,000 in Europe; 8.8 per 100,000 in North America; and 2.4 per 100,000 in Asia. Both males and females are affected equally.
The disease destroys nerve cells (neurons) in parts of the brain resulting in lower levels of chemicals called neurotransmitters that carry signals in the brain. People with this disease experience uncontrolled movements, loss of mental abilities, and changes in personality or behaviour.
Huntington’s disease is caused by mutations in a gene which produces a protein called huntingtin. The role that this protein plays in normal brain function is not well understood.
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. Management of mood disorders can also help decrease chorea.
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.
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