FAQ - Lesch-Nyhan Syndrome
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Can infants be genetically screened for lesch-nyhan syndrome?


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WHAT ARE THE CAUSES AND EFFECTS OF THE LESCH NYHAN SYNDROME?


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what are the causes and effects of the LESCH NYHAN SYNDROME?


TYPING IN ALL CAPITAL LETTERS  (+ info)

Anyone with Lesch-Nyhan Syndrome or know anyone with it?


I'm doing a 2-3 minute oral and I have to create a poster about this disease for Advanced Biology. I just wanted to know if anyone could share their story about this disease. I'm honestly not looking to just get the facts because I'm lazy, I know that some of the things they say online about a disease differ with what certain people have. Thanks for sharing! P.S. Please share your symptoms. (No rude Answers)
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Well i don't have lesch-nyhan but i'm 17 and i know about it.

Lesch-Nyhan is a rare(thank god) x-linked recessive genetic disease. This means that not many people get it, it occurs mostly(if not only) to males, and can only be gotten by inheriting it from parents, not from someone else like a cold. The cause of this disease in my opinion is simply bad luck in the dice roll for birth. The parents can both be fine and have a son with LN disease. A gene on a chromosome (i forgot which chromosome, sorry) got mutated at birth and thus resulted in the child having lesch-nyhan. It occurs mostly in Caucasians. Asians and africans rarely get it. I do not know the statistics of how many ppl get it in a year. There are many symptoms like mental retardation, weak legs, etc. However the symptom that makes lesch-nyhan disease stand out is SELF-MUTILATION, meaning the person hurts himself.
People with lesch-nyhan hurt themselves alot. They will try to bite their lip, bite hard objects to hurt their teeth, bite their tongue, try to peel flesh off their nose, skin. They will smack other people and are sometimes rude to them. They will bump their head wherever possible or try to bruise themselves.
You may wonder, "omg are lesch-nyhan victims emo or something? do they enjoy the pain?" NO THEY DO NOT. as they hurt themselves, they're crying in pain at the same time. They can't tell themselves to stop it and it sometimes seems as if they're possessed. I find this really sad but thankfully its extremely rare.
Unfortunately there currently are no cures for LN syndrome. however, there are many treatments. In terms of medicine, i'm not completely sure. but many people who help ppl with LN syndrome give them helmets to protect head banging, metal things for their teeth so they cant bite tongues, and most importantly gloves to protect their hands. They are also in wheelchairs. Well that's all i can say for now. Best of luck to you.  (+ info)

Can someone counsel me on how Lesch-Nyhan Sydrome is passed through three generations?


sorry couldn't find it in the wikipedia♦  (+ info)

Can a deaf person develop Coprolalia if he/she has Tourette's Syndrome?


Coprolalia is involuntary swearing or the utterance of obscene words or socially inappropriate and derogatory remarks. Coprolalia may also include references to genitals, excrement and sexual acts. It can be a single word, or complex phrases.

Coprolalia is an occasional but rare characteristic of Tourette syndrome and Lesch-Nyhan syndrome patients. Coprolalia comes from the Greek κόπρος meaning "feces" and λαλία meaning "babbling, meaningless talk". Coprolalia encompasses all words and phrases that are culturally taboo or generally unsuitable for acceptable social use, when used out of context. Coprolalia is not used to describe contextual swearing. It is usually expressed out of social or emotional context, and may be spoken in a louder tone or different cadence or pitch than normal conversation.
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People can only repeat what they hear and/or learn. That includes Tourettes patients.

Coprolalia occurs in FEWER than 10% of cases worldwide, and it is not a requirement for a diagnosis of Tourettes. It is the most made fun of, misunderstood symptom. I am really getting tired of the insults and references to people with Tourettes as complete lunatics! NOT TRUE.

I suppose it is in the realm of possibility that a deaf person could display this symptom as part of their Tourettes, but mysteriously cussing or repeating phrases that a person has never heard or learned is impossible.  (+ info)

What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?


I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?
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Klinefelter syndrome  (+ info)

Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?


Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.
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There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.

Read more at:

Welcoming Babies with Down Syndrome (English, Spanish, French)
http://www.bellaonline.com/articles/art32534.asp

There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:

http://www.ndsccenter.org/morealike/flash/

And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet
http://www.ndss.org/index.php?option=com_content&view=category&id=35&Itemid=57

You might also enjoy

Margaret's Guide to Down Syndrome
http://www.patriciaebauer.com/2007/05/12/margarets-guide-to-down-syndrome/

For bios of actors with Down syndrome, see:

Down Syndrome and the Acting Gene
http://www.bellaonline.com/articles/art34198.asp

and

DS in Arts and Media
http://www.dsiam.org/

and

Michael Johnson
http://www.users.psln.com/sharing/Michael/mainMichael.html

and

Sujeet Desai
http://www.sujeet.com

Down Syndrome Links at the Family Village website
http://www.familyvillage.wisc.edu/lib_down.htm

Check out this recent New York Times article:

The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus
http://www.nytimes.com/2007/05/09/us/09down.html

Have fun with your research!
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What is so bad about having down syndrome?


I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?
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WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.

It's always nice to have other people, who see that they are more alike, then different from the rest of us.  (+ info)

What is the syndrome called when you cannot feel physical pain?


I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.

What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.

It is for a story I am writing but I don't entirely know what it is.
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It's called "congenital insensitivity to pain"  (+ info)

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