An inherited disorder characterised by the progressive deterioration of brain cells, leading to movement, behavioural and cognitive problems.
Symptoms of Huntington’s disease vary between individuals and usually begin between the ages of 35 and 55 years. These include uncontrollable movement problems such as jerking, behavioural changes, psychiatric problems such as depression, communication problems, and sexual problems.
Huntington’s disease is caused by an inherited genetic mutation, impacting chromosome 4. The pattern of inheritance of Huntington’s is known as autosomal dominant. The mutated gene results in the inappropriate production of the huntingtin protein. The abnormal form of this protein causes damage to cells in the basal ganglia and cortex regions of the brain.
Huntington’s disease currently does not have a cure, and the progression of the disease is uncontrollable. Treatments therefore focus on alleviating symptoms. These include antidepressants, mood stabilisers, and medication to reduce involuntary movements.