Huntingtons Disease - Medical Malpractice Lawyers

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Huntingtons Disease - Medical Malpractice

Huntington's disease is an autosomal dominant hereditary disease that results in degeneration of the mental and motor function of the individual who suffers from it. Eventually, the person dies from the disease. It was first identified in 1872 by Dr. George Huntington as a specific disease but symptoms of the disease were noted as early as the middle ages. It was once called Huntington's chorea because of the choreiform movements (wide sweeping dance-like motions) of the affected patients. They twist and turn, making writhing movements in the latter stages of the disease.

Huntington's disease affects more than 1,000 people in Canada and at least 15,000 additional people have a fifty-fifty chance of getting the disease. As the disease is autosomal dominant, each person with the disease passes it onto fifty percent of their offspring.

The cause of Huntington's disease is the genetically programmed cell death and degeneration of the nerve cells in specific areas of the brain that control intellectual faculties, emotional regulation and movement. These areas of the brain include the deeper areas of the brain in the white matter and in the basal ganglia. It also affects the outer portion of the brain, in the cortex, where things like memory, perception and thought are controlled.

The gene that produces Huntington's disease is on chromosome 4, which means that women and men are equally affected. There are no racial differences in those who suffer from the disease. Because the disease is dominant, it only takes one abnormal gene to cause the disease. In recessive diseases, it takes both pairs of the gene to affect the occurrence of the disease. Huntington's disease is inherited from one parent only. The normal gene has a certain number of CAG gene bases at the end of the gene. In Huntington's disease, the CAG sequence is repeated many times over, which allows doctors to test for the presence of Huntington's disease before a person is actually affected by the gene. There is a cutoff for the number of CAG repeats allowed and anything over that puts a person at higher than average risk for getting Huntington's disease. A rare number of Huntington's disease patients are sporadic cases that have no family history but have a new genetic mutation.

The signs and symptoms of the disease vary with how far along a person is in the course of the disease. In the beginning, there are mood swings, irritability, apathy, angry symptoms or depressed symptoms. These symptoms may improve with worsening disease or may get worse. Deep depression is common in the disease. The cognitive function worsens and the person has trouble remembering things or doing certain tasks. Intellect decreases gradually and eventually becomes profoundly diminished. The person falls easily and eventually cannot walk at all. Choreiform movements are a sign of the disease in its middle and late stages. Speech and swallowing are affected and the person has problems recognizing family members, similar to other dementias. The most common causes of death include injuries caused by a fall, pneumonia and complications related to dementia.

Huntington's disease occurs at varying ages and depends on how many CAG repeats a person has. Most Huntington's disease patients are in their 30s and 40s at onset, and the disease progresses from there. Because the disease doesn't happen until after childbearing years, the person often passes the disease onto their offspring before they know they have the disease. This is where the new genetic testing comes in. A person can choose to be tested to see if they are at risk for the disease at any age so they can choose not to have children if they have the disease. It is a very emotional decision to decide whether or not to be tested for the disease because it can affect a person's health insurance and emotional stability if they know they are doomed to have the disease. A few people get the disease before the age of 20 and are considered to have "juvenile" Huntington's disease. The decline in functioning is usually quite rapid. Those with juvenile disease tend to have the largest number of CAG repeats and tend to inherit the disease from their fathers. Very few people get the disease after the age of 55 years.

There is no cure for Huntington's disease and the disease is treated symptomatically. A new drug called tetrabenazine has been approved for the treatment of the chorea seen in the disease. Antidepressants, anti-anxiety agents and anti-psychotics are also medications that control symptoms of the disease.

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The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here