Huntington’s Disease
In Huntington’s disease (also called Huntington’s chorea, hereditary chorea, chronic progressive chorea, or adult chorea), degeneration in the cerebral cortex and basal ganglia causes chronic progressive chorea (dancelike movements) and mental deterioration, ending in dementia.
Huntington’s disease usually strikes people between ages 25 and 55 (the average age is 35); however, 2% of cases occur in children, and 5% occur as late as age 60. Death from heart failure or pneumonia usually results 10 to 15 years after onset. Because the disease is hereditary, it’s prevalent in areas where affected families have lived for several generations.
Recent genetic studies have identified a marker for the gene linked to Huntington’s disease, opening the way for the development of a predictive test for those at risk for the disease.
Causes
The cause of the disease is unknown. It’s transmitted as an autosomal dominant trait; either sex can transmit and inherit it. Each child of a parent with this disease has a 50% chance of inheriting it; however, the child who doesn’t inherit it can’t pass it on to his own children.
Complications
Potential complications include choking, aspiration, pneumonia, heart failure, and infections.
Assessment
Assessment findings vary, depending on disease progression. The patient history usually shows a family history of the disorder, along with emotional and mental changes.
The onset of Huntington’s disease is insidious. The patient eventually becomes totally dependent through intellectual decline, emotional disturbances, and loss of musculoskeletal control.
In the early stages, the patient is described as being clumsy, irritable, or impatient and subject to fits of anger and periods of suicidal depression, apathy, or elation. As the disease progresses, family members may report that the patient’s judgment and memory have became impaired. Hallucinations, delusions, and paranoid thinking may occur. (In late stages, emotional symptoms may subside, but eventually dementia does occur.) The family describes a gradual loss of intellectual ability, although the patient seems to be aware that his symptoms result from the disease. (Keep in mind that the dementia doesn’t always progress at the same rate as the chorea.)
The patient may be described as having a ravenous appetite, especially for sweets. In late stages, the patient may note loose bladder and bowel control.