Lesch Nyhan Syndrome, A General Overview
This page is a work-in-progress class project for a human genetics course that I am taking. I am still working on properly citing my work, and fleshing out this page, so please be patient. The goal of this page will be to help people to understand Lesch-Nyhan Syndrome on not just a genetic/biological level, but also on a personal level. My goal is that students and individuals who want to understand Lesch-Nyhan will walk away with a clear understanding of the genetic basis and physical aspect of this syndrome, but that this understanding will reach beyond a textbook description of a list of symptoms to an understanding of what it is like to be in the shoes of someone who lives with Lesch Nyhan on a daily basis.
About Lesch Nyhan SyndromeLesch Nyhan Syndrome is a genetic disorder that leads to severe physical and neurological disability. SymptomsLech Nyhan is characterized by an inability to control motor functions, including spastic movement, a buildup of uric acid (due to the lack of a particular enzyme) leading to gouty arthritis and other physical ailments, mental retardation, and involuntary self-mutilization. The symptom most unique to Lesch-Nyhan is the biting of the fingers and lips as part of the self-mutilization process. This biting of the lips and fingers is a strong indication that the individual is suffering from Lesch-Nyhan, as opposed to another genetic disorder. BehanviorIndividuals with Lesch-Nyhan Syndrome will often act out in a verbally abusive manner in order to provoke a reaction from caregivers and from individuals that they may come into contact with as part of the involuntary self-mutilation process. |
History
Treatment
Individuals and Cases
Chilli - Chilli is a young man with Lesch Nyhan Syndrome. In this video he is being interviewed about how his day went.
Support Groups
