Huntington's Disease

                       A heritable disease that leads to the death of brain cells                                                            Shaina Cadalin STEM A                                        Performance Task in Biology 2

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The disease may be rare, but hope should not be.

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A normal brain vs. a brain associated with huntington’s disease

“Huntington’s disease, the most devastating illness known to humanity”

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What is Huntington’s Disease?

             HD is a fatal genetic disorder that causes the breakdown of nerve cells in the brain. An adult-onset disease that usually appears at people from ages 30 to 40 years old. As the disease progresses, movements and coordination worsen too. As so, people with Huntington’s  Disease gradually experience a change in personality and deteriorated thinking skills. Individuals with the disorder usually lives for at least 15 to 20 years since the appearance of any symptom. 

HD is incurable, yet.

HD attacks nerve cells gradually.

Earliest symptoms include mood swings, clumsiness and peculiar behavior.

The disorder is caused by an oversized protein, hutingtin.

Afffecrs both sexes equally

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DISCLOSING THE HISTORY OF HUNTINGTON’S CHOREA

Huntington's Disease was first recognised as an inherited disorder in 1872 when a 22-year-old American doctor, George Huntington, wrote a paper called On Chorea. His paper was later published in the Medical and Surgical Reporter of Philadelphia and the disorder he described became known as Huntington's Chorea. "Chorea" comes from the Latin and Greek words meaning chorus or a group of dances. The term was given to many so-called "dancing disorders" that became noticed in the Middle Ages. In those days, people with chorea, like the involuntary muscle jerks and twitches characteristic of HD, were often thought to be possessed by devils. It is believed that at least one of the alleged "witches" executed in Salem, Massachusetts in the 1690's had HD. Today the term Huntington's (or Huntington) Disease is more commonly used than Huntington's Chorea. Throughout the eighteenth and nineteenth centuries, chronic adult hereditary chorea was poorly understood because people who had the HD gene died before the symptoms could develop. Now that we live longer, the HD gene has more time to express itself. The discovery of the gene in 1993 was a major milestone in the history of HD. The scientific community worked very hard to find the gene and the process was long and tedious, requiring great patience and perseverance. Nevertheless the job is not over until an effective treatment is found. The scientists working on HD today are brilliant and passionately committed to finding a cure. It's hoped that one day researchers will find the answer to the puzzle of HD and support groups like this Association will no longer have to exist. Until then, support groups worldwide will continue to raise money for research, support services and an improved awareness and understanding of HD in the wider community.

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THE STAGES!!!!!

The progress of huntington’s disease in a person may vary yet this concludes each stage:

1. Subtle changes in coordination, involuntary movements, difficulty in thinking 2. Worse movement disorder, diminished speech skills and difficulty in swallowing 3. Person with HD depends on the care of others

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WHAT IS THE METHOD OF INHERITANCE FOR HD?

The Disease only requires a single copy of the altered gene to suffice the cause of its concurrence. this mode of inheritance adheres to the idea of Autosomal Dominant Pattern. Every child whose parent/s has HD, there will be a 50-50 rate for the child to be a  carrier of  the altered gene that causes the Huntington’s Disease to attack one’body system. In most cases, the altered gene is always inherited from one affected parent, it might be too, that, a child does not get to inherit any of the altered gene. As so, the mode of passing the gene stops. 

The gene responsible for this is called, HTT. As HTT is passed unto the next generation, the size of CAG TRINUCLEOTIDE REPEATS increases in size. With a larger number of repeats present, there is too an earlier visual of the signs and symptoms of HD. If a parent only obtains 27-35 repeats in an altered gene, there will be no probability of owning the disease. On a different unfortunate circumstance, the children will carry the risk for such fact that the repeats will increase in size and cause the disease to develop.

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There several names rendered by Science for Huntington’s Disease:

1. Huntington Chorea 2. Huntington Chronic Progressive Hereditary Chorea 3. Huntington’s Chorea

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Living with Juvenile Huntington's Disease

Four families bravely share their experiences of living with Juvenile Huntington's disease. HD is a genetic brain condition which results in someone slowly l...

How does it truly feel to live a life with Huntington’s Disease?