Huntington Disease

Huntington Disease:

Huntington disease is a hereditary disorder in which the brain cells gradually breakdown over a period of time. It’s also known to deteriorate physical, emotional, and mental abilities during middle ages (30-45). Sometimes it occurs earlier. The earlier the disorder develops, the faster the symptoms occur. It does not have a cure, but there are ways to help treat the disorder.

How it is obtained?

It is known as a quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the gene. The disorder is a dominant trait and is not contagious.

Karyotype:

The mutation usually occurs in the 4th chromosome in DNA segment called CAG trinucleotide repeat in the HTT gene. The CAG trinucleotide repeat is usually repeated 10-35 times, but in people with HD (Huntington Disease), the segment is repeated 36-120 times. People with 40 or more repeats can develop HD. the HTT gene provides instructions to make the protein called huntingtin (function of the protein is unknown but seems to be a key role in the nerve cells in the brain).

Symptoms:

There are physical, mental, and emotional symptoms of HD. Some of the physical symptoms include: involuntary jerking movement of the limbs, trouble swallowing and walking, slowness in activity, abnormal gait, weight loss, and an impaired voice. The emotional and mental symptoms are: difficulty with communication (slurred speech), problems with organization, memory loss, personality changes, delusion, lack of concentration, difficulty understanding and thinking, irritability, lack of restraint/judgment, and slowness of thought.

Diagnosis:

The diagnosis depends on the physical and mental changes of the person, positive family history of HD, and DNA testing. DNA testing can also determine if an asymptomatic person will eventually develop the disorder.

Treatment:

There is no cure but there is medication that helps control movement of the body, depression, and other...