What is Lesch-Nyhan Syndrome?
Lesch-Nyhan syndrome is a condition that causes neurological problems that resemble cerebral palsy and characteristic behavioral issues. It almost always occurs in boys and is due to a build up of uric acid in the body. Uric acid is a waste product of normal chemical processes of the body and is found in blood and urine.
Neurological differences in Lesch-Nyhan syndrome are usually noticeable before 12 months of age. These include uncontrollable movements in the arms and legs (dystonia), repetitive movements (chorea), and low muscle tone or soft muscles (hypotonia). Later there is increased muscle tone and muscle rigidity (spasticity). These neurological differences may resemble cerebral palsy. Many affected boys are delayed in reaching, or fail to reach, developmental milestones such as sitting and crawling. Most will not learn to walk.
People with Lesch-Nyhan syndrome often try to injure themselves through biting, banging of their heads, arms, and legs, and scratching. The biting behaviors are severe and often lead to loss of tissue.
The extra uric acid sometimes forms crystals in the kidneys causing kidney stones. These can also lead to other problems in the urinary tract and kidneys if not treated. Crystals formed from the uric acid may also be found in the joints. This can cause stiffness and swelling in the joints (gouty arthritis).
The best person to diagnose Lesch-Nyhan syndrome and discuss the symptoms is a medical geneticist (a specialist in inherited/genetic conditions) or pediatric neurologist (a specialist in conditions of the nervous system for children). Medical geneticists and pediatric neurologist in an area can be found by talking to doctors about who they would recommend or using the “Find Genetic Services” function at the American College of Medical Genetics.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/lesch-nyhan-syndrome/overview/8011 • DATE UPDATED: 2016-06-08