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Transcript of Introduction
Clinical Description of the Disorder
Gross atrophy & gliosis of the caudate nucleus & putamen occur.
Onset is gradual, often occurs in middle age, & is characterized by slow progression of dementia, choreoathetosis, behavioral changes, dysphagia, & eye movement abnormalities.
Patients have a characteristic gait, which is interruped by involuntary choreic movements.
A variant of the disease is characterized by an akinetic-rigid syndrome with myoclonus & dystonia with minimal chorea .
Patients with juvenile Huntington Disease usually inherit the defective gene from there fathers, whereas those with later onset usually inherit the gene from their mothers.
Mode of Inheritance
The disease is caused by an autosomal dominant mutation in either of the individual's two copies of a gene called Huntingtin. This of course means any child of an affected person typically has a 50% chance of inheriting this disorder.
Huntington's Disease, or known as HD or Huntington's chorea. Huntington's most visible sign is Chorea. This is why we use to call it Huntington's chorea. HD is a genetic disorder affecting the brain. HD affects the two genes called Huntingtin, giving their offspring a 50% chance of getting the disease.
So far there has been no cure, & no way to stop it from getting worse. There is a goal though. They want to be able to slow down the symptoms & help the person function for as long & as comfortably as possible. For now all you can do is take certain medication (for certain symptoms) to possibly slow it down.
The symptoms of Huntington's Disease is easy to catch, but they do not show until the diease is actually developing. The average age of the symptoms show is from 30 to about 50. There are the rare cases that they begin to show at the age of 2 to your late 80s. Because of this, there is is no exact way to detect Hutington's disease.