woman with huntington's chorea part (1 of 2)

this is my wife niki she has huntington's chorea this is a video i made for our 2 yearold twin girls hannah and savannah to remember there mom as they get older.


Huntington's disease (HD), known historically as Huntington's chorea and chorea maior, is a rare inherited neurological disorder affecting up to approximately 1 person per 10,000 people of Western European descent and 1 per 1,000,000 of Asian and African descent. It takes its name from the New York physician George Huntington who described it precisely in 1872 in his first medical paper. HD has been heavily researched in the last few decades and it was one of the first inherited genetic disorders for which an accurate test could be performed.
Huntington's disease is caused by a trinucleotide repeat expansion in the gene coding for Huntingtin protein (Htt) and is one of several polyglutamine diseases. This expansion produces an altered form of the Htt protein, mutant Huntingtin (mHtt), which results in neuronal cell death in select areas of the brain. Huntington's disease itself isn't a terminal illness, but complications caused by it reduce life expectancy.
Huntington's disease's most obvious symptoms are abnormal body movements called chorea and a lack of coordination, but it also affects a number of mental abilities and some aspects of behaviour. Physical symptoms occur in a large range of ages, with a mean occurrence in a person's late forties/early fifties. If the age of onset is below 20 years then it is known as Juvenile HD. As there is currently no proven cure, symptoms are managed with various medications and care methods.

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Education

Tags:

• huntington's
• chorea

[dinnerplatejack]

Thank you for posting this. As a medical student, it's great to see what some of these symptoms look like and, of course, to be reminded of the human element.

All the best to you and your family.

[roxychik8228]

Hi, My names Lisa and im 17 years old.. I have just been tested positive for huntingtons. Im so scared about whats going to happen

[distractionxx]

very interesting video thanks

[alexasmithy]

really informative and interesting

[SuperDogbrown]

great video thanks

[thejameskan]

some really good stuff here

[shellybirdy]

some great inforamtion here thanks

[Cyrus0305]

@roxychik8228 I am so sorry Roxy for the bad news, I know this is a really late reply but I will pray for you and I hope you have the strength to fight this disease.

[imjessij]

Thank you so much for letting us into your lives. I have a test tomorrow morning of huntingdon's. This helps me, as future nurse, to know there is not a diseased person, but a person with a disease.

[polloloco3]

Thank you for the brave post. When studying these diseases we often forget about the people that are effected by them, and more importantly their family. Take care!

[MyStephLove]

Autoimmune disorders...this is a nasty disease, once again thank you for posting this.

[tinkydinkyful]

Lisa, improvements are made steadily in the treatment of HD. By the time you are old enough to be stricken by it, research will be even farther along. Be encouraged, child.