- Neurological and behavioral abnormalities
- Overproduction of Uric acid (causing arthritis and kidney/bladder stones)
- Hard to control muscles and thus often cause self-injury
Lesch-Nyan Syndrome is passed on by a genetic mutation in the X chromosome. For it to be present in females, the mutation must be present in both X chromosomes which makes it much more rare however men only need the mutation in one X chromosome for the disease to be present.
- Behavioral traits
- Family history
- Genetic testing
1 in every 380,000 people
Not life threatening however, self-injury may occur
Generous hydration and allopurinol are used to keep Uric acid levels down but behavioral and neurological symptoms cannot be cured.
"X-linked" diseases cannot be transmitted from fathers to sons.
This is where the genetic mutation must be present for the disease to occur.
Genetic testing is one of the ways to diagnosis Lesch-Nyan Syndrome.
Lesch-Nyan syndrome patients suffer from neurological and behavioral abnormalitites