Huntington's Disease

A genetic disorder that causes impaired intelligence.

Symptoms of Huntington's Disease

There are 3 categories of symptoms.

1. Movement (involuntary jerkiness, abnormal eye movements)

2. Cognitive (impulsive actions, impaired intelligence, clumsiness)

3. Psychiatric (social withdrawal, thoughts of suicide)

The symptoms of Huntington's disease begin to appear between ages 30- 40.

Lifestyle Changes

Huntington's disease can affect your lifestyle in massive ways.

As you approach the age of 35 or 40, you will be unable to do simple tasks, lose thinking skills, and experience the loss of balance.

You may also have to stay in a nursing home for Huntington's Disease for the rest of your life.

How does Huntington's Disease Work?

The production of HTT(huntingtin) is affected by Huntington's. In people affected by Huntington's disease, the CAG(cytosine, adenine, guanine) sequence is repeated 40-120 times(normally 7-36 times). This results in an abnormally long version of the protein. This is cut into many smaller pieces that bind together and accumulate in neurons, disrupting the normal functions of the cells.

Inheritance Pattern

Huntington's disease is linked to the 4th chromosome, and it is the dominant allele. If you have the disease, you genotype is Hh or HH. Since is is linked to the fourth chromosome, anyone can get it.
The affected person has the genotype of HH, and marries another person that is not affected(hh). There is a 100% chance of the children being affected.
The affected person has the genotype of Hh, and marries another person that is not affected(aa). Here, there is only a 50% chance that the children will be affected.

Diagnosis of Huntington's Disease

Doctors can diagnose Huntington's disease by looking at your family's medical history.

They can also test your hearing, eye movements, coordination, involuntary movements, and mental status.

Doing a MRI scan on the brain may also reveal damage, indicating internal brain damage.

Are there treatments for Huntington's Disease?

There is currently no cure for Huntington's disease, but many other therapies can help with the symptoms. Drugs also exist that can help with the symptoms of Huntington's disease, like Tetrabenazine, which can help with involuntary movements.

What will an affected person's future look like?

After experiencing symptoms of Huntington's disease, you might only have 10-20 more years to live. Also, your quality of life will steadily go down, as simple tasks will become difficult.


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