Adult-onset Huntington's Disease, second Post


Huntington’s Disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It well known for causing uncontrolled movement, emotional problems, and loss of cognition.

HD is caused by a mutation in the mhTT gene on chromosome 4. This gene gives instructions for making a protein called Huntingtin. The exact function of this protein is unclear, but it is believed that this protein is important to nerve cells in the brain. The mutation in the mhTT gene that leads to HD involves a DNA segment known as a CAG trinucleotide repeat. The CAG segment in a normal HTT gene repeats 10 to 35 times. In people with HD, it repeats from 36 to over 120 times. The excessive repetition of this DNA segment results in a larger form of the Huntingtin protein.

HD is referred to as the quintessential family disease because every child of a parent with HD has a 50/50 chance of caring the faulty gene. This is because HD is inherited in an autosomal dominant manner. Therefore, having a mutation in only one of the 2 copies of HTT gene is enough to cause HD.

This disease deteriorates an individual physical and mental abilities when they are in their prime working years. People with Adult-onset HD usually start showing symptoms when they are 30-50. Symptoms become progressively worse over the next 10-25 years. Many have described the symptoms of Huntington’s Disease as having Lou Gehrig’s disease, Parkinson’s and Alzheimer’s simultaneously. People with HD display various symptoms such as personality changes, mood swings, depression, forgetfulness, impaired judgment, unsteady gait. involuntary movements, slurred speech, difficulty in swallowing and significant weight loss. Those with HD usually die from the complications that accompany the disease such as choking, or an infection but never from the disease itself.

The symptoms of HD do not start at the same time. Huntington’s Disease occurs in three stages (early, middle, and late). During the early stage, individuals often experiences changes in coordination, involuntary movements, difficulty with critical analysis, and depression. The middle stage accompanies worsening involuntary movements, diminished speech, and difficulty swallowing. The late stage is when the symptoms become severe to the point that the infected individual needs constant assistance. At this stage, the individual has lost its ability to walk and speak but can fully comprehend language.

Huntington’s Disease has no known cure, but medications, physical therapy, and speech therapy can help with some of the experienced symptoms.



Links: http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/the-inheritance-of-huntingtons-disease-text-and-audio/


Comments

  1. Lauren kabelDecember 1, 2017 at 5:32 PM

    I think this is a good explanation for the variable onset of HD! You do a good job of explaining the cause and symptoms of HD concisely!

    ReplyDelete
  2. UnknownDecember 1, 2017 at 9:10 PM

    A very interesting and insightful explanation of Huntington's Disease. I am very interested in neurodegerative diseases and I haven't read much about Huntington's. Great post Samson!

    ReplyDelete
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