Learn: Signs and Symptoms
Deciphering Lesch-Nyhan Syndrome goes beyond understanding its genetic origins; it's also about recognizing its tangible impact on the human body. In this section, we will delve into the myriad of symptoms and signs, both from a layman's viewpoint and a detailed medical perspective. From the nuanced neurological manifestations to the evident motor disorders and self-inflicted behaviors, we aim to paint a comprehensive picture of what living with this condition truly entails.
Understanding Lesch-Nyhan Syndrome
Signs and Symptoms
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Studies and Research
Glossary of Terms
Symptoms and Signs
Lesch-Nyhan symptoms vary depending on HGprt (Hypoxanthine-guanine phosphoribosyltransferase) enzyme function. The symptoms of Lesch-Nyhan Syndrome may become apparent as early as six months of age. One of the first reported symptoms is ‘orange sand’ in the diaper. Lesch Nyhan Disease is a spectrum like many other diseases.
<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.
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.
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
Self Injurious Behaviors
Self-injury is a hallmark feature of Classic Lesch-Nyhan 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 is a complex multisystem disability that requires ongoing care throughout the lifespan.
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: SIwR to extinguish behavior.
Vomiting and Spitting
Intervention: SIwR 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.
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.