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The disease was Huntington’s Chorea, which is an inherited, degenerative disorder of the Central Nervous System, caused by a dominant gene. This means that everyone who inherits the gene from one of his/her parents WILL develop the disease, and the likelihood of doing so is therefore 50%.
Huntington’s Chorea is a particularly devastating disease because symptoms normally do not occur until after the age of 35, but can onset later (the earlier the onset, the more severe the disease tends to be). It is principally a movement disorder, with the first observable symptoms manifesting themselves as ‘clumsiness’, but as the disease progresses the movements become uncontrollable. These movements appear to be very bizarre and include odd bodily postures. Other symptoms are also apparent including forgetfulness and irritability or withdrawing (in the early stages) progressing to dementia with severe memory loss and lack of reasoning.
Patients suffering from Huntington’s Chorea show degenerative changes in the basal ganglia structures, which ultimately result in a severely shrunken brain and enlarged ventricles. The caudate and putamen brain structures are particularly affected as they shrink up to half their normal size.
The symptoms of the disease are caused by a significant reduction (volume and activity) of two principal neurotransmitters (naturally occurring chemicals in the brain) - namely Acetylcholine and GABA, in turn affecting the activity of the neurotransmitter Dopamine, which becomes hyperactive. Huntington’s Chorea is therefore the ‘flip side of the coin’ to another movement disorder - Parkinson’s Disease where there is dopamine under activity.
Huntington’s Chorea is principally characterized by hyperkinesias - abnormal, purposeless, involuntary motor movements that can occur spontaneously or only when the patient is trying to do something. These movements may be repetitive or non-repetitive.
Drug therapies can ease the symptoms of the disease (including the use of dopamine antagonists or neuroleptics) but there may be severe side effects with these drugs. Unfortunately, there is no cure for Huntington’s Chorea. However, new techniques involving neural grafting (implanting healthy fetal brain cells into the damaged areas) may offer hope for sufferers in the near future.
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