Learn: Signs and Symptoms
Living with Lesch-Nyhan Syndrome involves more than just a diagnosis—it’s about understanding how the condition affects daily life. In this section, we explore the common signs and symptoms in clear, approachable language. From movement challenges and muscle stiffness to behavioral and neurological differences, we aim to help families, caregivers, and community members recognize what this condition can look like and how it may vary from person to person. Our goal is to bring understanding, awareness, and support to everyone impacted.
Understanding Lesch-Nyhan Syndrome
Signs and Symptoms
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Studies and Research
Glossary of Terms
Signs and Symptoms
One of the first signs parents or caregivers may notice is a reddish-orange “shiny sand-like” substance in the diaper, which comes from crystals in the urine. This “orange sand” can appear before any neurological or movement symptoms and is an early clue that uric acid levels may be high.
Before any movement or behavioral symptoms appear, some parents notice a reddish-orange, shiny, sand-like substance in their baby’s diaper.
This occurs when uric acid crystals form in the urine and can be one of the earliest visible signs of Lesch-Nyhan Disease (Syndrome).
If you notice this, share your observation with your child’s pediatrician — early awareness can help guide testing, diagnosis, and support.
Lesch-Nyhan exists on a spectrum, meaning symptoms can range from mild to more complex, just as with many other conditions. The symptoms of Lesch-Nyhan Syndrome can vary from person to person, depending on how much the HGprt enzyme (hypoxanthine-guanine phosphoribosyltransferase) is working in the body. Signs may begin to appear as early as six months of age. One of the first things families sometimes notice is a reddish-orange “shiny sand-like” substance in the diaper, which comes from crystals in the urine.
The symptoms of Lesch-Nyhan Syndrome can vary from person to person, depending on how much the HGprt enzyme (hypoxanthine-guanine phosphoribosyltransferase) is working in the body. Signs may begin to appear as early as six months of age.
Lesch-Nyhan exists on a spectrum, meaning symptoms can range from mild to more complex, just as with many other conditions.
<1.5% HGprt enzyme activity
Classic Lesch Nyhan and most severe symptoms of LND are exhibited. Self injurious behaviors.
1.5% - 8% HGprt enzyme activity
Patients will exhibit a variable phenoype and do not have self injurious behaviors; indissnguishable from patients with Classic LND
>8% HGprt enzyme activity
Patients do not have any behavioral or neurological manifestations. only sign is the increased serum uric acid.
Neurological Symptoms
Usually begin within first 6 months of age
Lack of head control
Hypertonia - Increased muscle tone
Fisted hands
Missed milestones
Motor Disorder
Complex gross and fine motor dysfunction that may present with some or all of the following motor function impairments.
Spasticity: Abnormal increase in muscle tone or stiffness of muscle
Hypotonia: Decreased/low muscle tone.
Dystonia: Involuntary, uncontrollable movements caused by muscle contractions
Opisthotonos: Spasm of the muscles causing backward arching of the head, neck, and spine
Kidney Dysfunction
Early urate crystal formation, from increased levels of uric acid in the urine, leads to the presence of orange deposits (“orange sand”) in the diapers of infants.
Self Injurious Behaviors
Self-injury can be one of the most challenging aspects of Classic Lesch-Nyhan Syndrome. While self-injurious behaviors can occur in other conditions, people with Lesch-Nyhan often experience them in unique and complex ways. These behaviors are not a choice, but rather part of how the condition affects the brain and body. It’s important to know that using punishment or negative reinforcement can make these behaviors worse, so compassionate and supportive approaches are essential. Because Lesch-Nyhan affects many parts of the body and mind, individuals benefit from lifelong, coordinated care that supports their physical, emotional, and behavioral well-being.
Physical Self-Injury
Examples: Eye poking, scratching, closing off the airway to induce hypoxia.
Note: Self-injury using teeth warrants its own category.
Self-Injury Using Teeth
Examples: Biting fingertips, lips, and inside cheeks to disfigure the face.
Intervention: Immediate removal of teeth is standard in at least 50% of individuals with LND.
Self-Injury Using Objects
Examples: Hands and fingers inserted in spokes of a moving wheelchair, head banging, rubbing head and ears against unprotected headrests.
Protection: Essential devices to prevent self-injury.
Indirect or Outward Aggression
Examples: Aggressive swearing at caregivers, cultural, sexist, and racist comments.
Intervention: Early identification and use of Selective Ignoring with Redirection (SIwR).
Self-Sabotage
Examples: Refusing to attend events, willfully performing poorly on tests, making false statements.
Note: Active and passive behaviors to prevent goal accomplishment.
Manipulative Behaviors
Examples: Convincing caregivers that protective equipment is not needed, stopping communication between caregivers.
Intervention: Addressing triangulation and ensuring consistent communication.
Diversion and Disruption
Examples: Making false complaints, diverting attention away from urgent issues.
Intervention: Selective Ignoring with Redirection to extinguish behavior.
Vomiting and Spitting
Intervention: Selective Ignoring with Redirection to manage these common forms of self-injury.
Lying and Exaggeration
Examples: False accusations, suicidal thoughts.
Note: Often misinterpreted and better thought of as over-exaggeration.
Note : Selective Ignoring with Redirection (SIwR)
Selective Ignoring with Redirection refers to the intentional act of choosing to ignore certain stimuli, information, or distractions while redirecting attention or focus toward a specific target or task. It involves filtering out irrelevant elements to concentrate on what is considered more important or relevant in a given context.
Essential Principles:
There must never be evidence – in the behavior or actions of the caregiver – of punishment, however subtle.
It must be immediately implemented after recognizing a self-injurious behavior.
Use by everyone across all environments until the behavior is extinguished.
The redirection component allows for altering the behavior without calling attention to it.
If your child has recently been diagnosed with Lesch-Nyhan, it's important to understand the signs and symptoms associated with the condition. This information can help you better understand the individual’s needs and advocate for appropriate care.
Children and Adults with Lesch-Nyhan may experience a variety of symptoms, including self-injurious behavior, neurological problems, motor difficulties, kidney stones, and gout. However, it's important to remember that each child's experience with the condition will be unique.
If you have any questions or concerns about your child's or adult’s symptoms, please talk to your doctor. They can help you understand the individual’s specific needs and provide appropriate care.