HUNTINGTON DISEASE Meaning and
Definition
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Huntington Disease, also known as Huntington's Disease (HD), is a chronic and progressive genetic disorder that affects the brain. It is inherited in an autosomal dominant pattern, meaning that the offspring of an affected individual has a 50% chance of inheriting the disease.
The disease is caused by a mutation in the Huntingtin (HTT) gene, resulting in the production of a toxic protein called mutant huntingtin. This protein progressively damages nerve cells in certain regions of the brain, primarily the basal ganglia and cerebral cortex.
Huntington Disease gradually impairs a person's cognitive abilities, motor skills, and behavioral control. Symptoms typically begin to manifest between the ages of 30 and 50, although both earlier and later onset cases are possible. Early symptoms often include subtle difficulties with coordination, mood swings, involuntary movements (chorea), and trouble concentrating. As the disease progresses, individuals may experience increased difficulty with speech and swallowing, as well as significant cognitive decline, including memory loss and decreased decision-making abilities.
There is currently no cure for Huntington Disease, and treatment primarily focuses on managing symptoms and improving the quality of life for affected individuals. Medications can help control movement problems, psychiatric symptoms, and other associated conditions. Supportive therapies, such as physical therapy, occupational therapy, speech therapy, and counseling, also play a crucial role in managing the progression of the disease and maximizing overall well-being.
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Etymology of HUNTINGTON DISEASE
The term "Huntington's disease" is named after the American physician George Huntington, who first described the condition in 1872. George Huntington observed the disease's symptoms in several generations of affected families in East Hampton, Long Island, New York. His detailed account of the disease, titled "On Chorea", was published in the medical journal "The Medical and Surgical Reporter" in 1872. Since then, the condition has been known as Huntington's disease in honor of Dr. George Huntington.
