What is a primary characteristic of Lesch-Nyhan Syndrome?

A primary characteristic of Lesch-Nyhan Syndrome is the presence of self-injurious behaviors and, in some cases, hemiplegia. This rare genetic disorder is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), which leads to the accumulation of uric acid in the body. The high levels of uric acid are associated with various physical symptoms, including dystonia, spasticity, and the distinctive self-mutilating behaviors that affect the oral cavity and other parts of the body.

While cognitive impairments can occur, the hallmark features of Lesch-Nyhan Syndrome are the severe behavioral issues and physical symptoms rather than an isolated effect on cognitive functions. Therefore, the combination of self-injurious behaviors and potential for physical disabilities like hemiplegia makes this choice the most accurate representation of the syndrome. Understanding these key characteristics is crucial for recognizing the challenges faced by individuals with this condition and for providing appropriate support and interventions.