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Tag: Huntington’s Disease Disorder


Huntington's Disease Disorder

Huntington’s disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms. Its symptoms of the disease can vary between individuals and affected members of the same family, but usually progress predictably. The earliest symptoms are often subtle problems with mood or cognition. A general lack of coordination and an unsteady gait usually follows. When the disease advances, it becomes uncoordinated with jerky body movements with a decline in mental abilities and behavioral symptoms. The Physical abilities gradually worsen until coordinated movement becomes difficult. Mental abilities generally decline into dementia. Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years from the point at which symptoms begin. Physical symptoms can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. The disease may develop earlier in life in each successive generation. About 6% of cases start before the age of 21 years with an akinetic-rigid syndrome; they progress faster and vary slightly. The variant is classified as juvenile, akinetic-rigid, or Westphal variant HD. Huntington disease disorder is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington’s chorea. The disease is caused by an autosomal dominant mutation in either of an individual’s two copies of a gene called Huntingtin. This means a child of an affected person typically has a 50% chance of inheriting the disease. The Huntingtin gene provides the genetic information for a protein that is also called “huntingtin”. Expansion of a CAG (cytosine-adenine-guanine) triplet repeat stretch within the Huntingtin gene results in a different form of the protein, which gradually damages cells in the brain, through mechanisms that are not......

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