Lesch-Nyhan Syndrome
Mark Lide
Description
Symptoms
- 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.
Diagnosis
- Behavioral traits
- Family history
- Genetic testing
Frequency
1 in every 380,000 people
Life Expectancy
Not life threatening however, self-injury may occur
Treatments
Generous hydration and allopurinol are used to keep Uric acid levels down but behavioral and neurological symptoms cannot be cured.
Interesting Facts
"X-linked" diseases cannot be transmitted from fathers to sons.
References
http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome
X Chromosome
This is where the genetic mutation must be present for the disease to occur.
Genetic Testing
Genetic testing is one of the ways to diagnosis Lesch-Nyan Syndrome.
Symptoms
Lesch-Nyan syndrome patients suffer from neurological and behavioral abnormalitites