Lack of oxygen (cerebral hypoxia) can lead to seizures. Other symptoms may include confusion, difficulty speaking, and coma. Cerebral hypoxia is a medical emergency that can be fatal and cause lifelong brain damage. Hypoxic ischemic encephalopathy (HIE) is a condition that can cause brain injury and seizures due to oxygen loss.

recurring involutory limb or facial movements

Dysphagia is difficulty in swallowing

Dystonia refers to uncontrollable muscle contractions and movements. Dystonia can be localized to one muscle group or generalized to the entire body.

Hyperuricemia is a condition where there is too much uric acid in the blood, which can lead to kidney stones, joint pain, or gout.

Hypotonia is decreased muscle tone, a state in which the muscle is always relaxed.

Spasms that arch the head, neck and back backwards while the body bows forward

Mean Corpuscular Volume (MCV) measures the average size of red blood cells.

an abnormal low hemoglobin content or number of peripheral red blood cells.

Self-injury is a hallmark feature of Lesch Nyhan disease and constitutes the most dramatic part of the behavioral phenotype. Although self-injury occurs in other intellectual disabilities, individuals with LND exhibit an unrelenting and diverse form of self-injury not otherwise observed. What also sets it apart is a dramatic increase in self injurious behaviors when punishment is used as a component of behavioral modification interventions. In addition to behaviors that impact every facet of their lives, Lesch-Nyhan disease is a complex multisystem disability that requires ongoing care throughout the lifespan.