Beruflich Dokumente
Kultur Dokumente
Vanessa Perez
Lesch-Nyhan Syndrome
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Michael Lesch and William Nyhan first discovered this disease in 1964. They were the
Syndrome is a rare hereditary disease that affects young boys. Lesch-Nyhan Syndrome affects
approximately 1 in 380,000 births in the United States. (W.L. (n.d.), "Nyhan", 2016) This usually
occurs around the age of 3 to 6 months. In addition, it usually causes very early deaths in the
persons life. People who suffer from Lesch-Nyhan Syndrome have the life span of 20-30 years
of age.
The gene that is related to Lesch-Nyhan Syndrome is the mutation in the HPRT1 gene.
This gene causes this disease. The HPRTI gene provides an instruction manual that creates an
any purines in the body. This ends up being a building block of DNA. The way that people
accumulate Lesch-Nyhan Syndrome is through the X-linked recessive pattern. It is located on the
X chromosome, it is hereditary, and comes from the mother. (Genetics Home Reference, "Lesch-
It is a disease where they have over production of uric acid, neurologic disability, and
mutilating their fingertips, cheeks, tongue, and mouth. Another side effect is mental retardation
as well as involuntary muscular movements. This means that there is a lot of swelling going on
in their bodies and that they will eventually be confined to a wheel chair. Experts have also put
Lesch-Nyhan Syndrome in the same category as motor dysfunction that very much resembles
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Uric acid is a waste product of normal chemical processes and is found in blood and
urine. The excess uric acid can be released from the body and build up under the skin. This can
cause gouty arthritis and hurt the joints in that persons body. Another thing that makes these
patients suffer is that Lesch-Nyhan Syndrome also causes uric acid to accumulate, this then
After reading and discovering what Lesch-Nyhan Syndrome was, I learned that there is
no specific cure for the disease. I what I do know is that the treatment for Lesch-Nyhan
Syndrome is very symptomatic. It can be treated with Allopurinol, which is a way to control
excessive amounts of uric acid. Another way is to treat the kidney stones with Lithotripsy.
2016)This is a technique that helps break up kidney stones using shock waves or laser beams. A
There is not much research that is being done right now. What is happening though is that
scientists have found the gene that is associated with Lesch-Nyhan Syndrome. NINDS supports
and conducts a lot of research concerning the disease. It does this by conducting research on
genetic disorders in an effort to find different ways to treat Lesch-Nyhan Syndrome. A lot of the
money is going towards patients who are undergoing experimentation and seeing if certain drugs
work better than others do. Another huge chunk of money that is being donated to Lesch-Nyhan
Syndrome is going toward conducting more research on the disease. When they do this, they are
analyzing those who suffer from Lesch-Nyhan Syndrome and documenting their results.
Lesch-Nyhan Syndrome influences others very much. This would include family
members and doctors mostly. Doctors have to be very careful and make executive decisions
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when it comes to their patients. I say this because sometimes the self-mutilation gets so bad that
the doctor has to come to a consensus and have all the patients teeth extracted. The reason why
they do this is so that the patient who suffers from Lesch-Nyhan Syndrome cannot cause sores to
himself anymore. This also helps them to stop chewing on their tongue as well as chewing other
body parts. When the patient chews on their tongue, it can cause swelling and make it hard to
The same thing goes for the parents as well. They have to have great patience when
adapting to their child who has this Lesch-Nyhan Syndrome. It has been said that many patients
have little outbursts of rage. This cause involuntary muscular movements and can later harm
their family members who are near them at that time. After doing, a lot of research on this
disease I also came to find that when the patients get their teeth extracted it also takes some time
to understand what they are saying. The people who have this disease are still able to speak but
Moreover, because of the involuntary muscular movements it makes it hard for a patient
to function without a wheelchair. They are usually confined to this and will never be able to walk
again. This makes it a little harder on the family members because this causes them to have to
have a vehicle that can carry a wheelchair for their child. Another way that this affects the family
members is because many of times in order to keep their child stable they do have to use
medication to keep their uric acids down. This eventually can lead to lot of expenses. Being a
parent to someone who has Lesch-Nyhan Syndrome would be a fulltime job for that person and
In my opinion, it would take a lot of perseverance to be there for someone who has this
disease. The reason why I say this because it would take a lot of time and effort in ones life to
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accommodate to their needs. There would be many doctor visits because of all the medical
procedures and money as well. The doctor procedures would include surgeries, prescription
medicine, and daily checkups. If I were to be in that situation I would also get a working vehicle
After all this is said and done, I would need to make sure that I was there to care for them
or provide a caregiver. That would be my full time job if I were to choose this path. To me
learning about this disease was very eye opening. It made me feel sad because I did see an
interview where the person who had Lesch-Nyhan Syndrome, and how upset they were. They
understood that what they had would never completely go away. In addition, they understood the
toll that would undergo their dependence. If this was me, I would be very sad too.
I really enjoyed this project and learning about Lesch-Nyhan Syndrome. This has really
made a difference in how I see people who have these diseases. It makes it known that they had
no control over this and are just trying to live out their lives. I also learned that it takes a lot to
overcome the physical changes that one faces when they have Lesch-Nyhan Syndrome.
Nevertheless, the biggest thing that I learned is that one must humble themselves if they want to
get through anything at all. That is the main thing that I learned while getting a better
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References
Lesch Nyhan Syndrome - NORD (National Organization for Rare Disorders). (n.d.).
NINDS Lesch-Nyhan Syndrome Information Page. (n.d.). Retrieved March 20, 2016, from
http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm
http://emedicine.medscape.com/article/1181356-overview#a2
http://www.ncbi.nlm.nih.gov/books/NBK1149/
https://www.youtube.com/watch?v=1U6LDpF_LFE
https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome
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