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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Research and Development

Glossary of Terms

Symptoms and Signs

The symptoms of Lesch-Nyhan Syndrome may become apparent as early as six months of age.

  • Lesch-Nyhan symptoms vary depending on HPRT (hypoxanthine phosphoribosyl transferase) enzyme function.

  • <1.5% enzyme function - Classic and most severe symptoms of LND are exhibited.

  • 1.5% - 8% enzyme function - Patients will exhibit a variable phenotype and do not have self-injurious behaviors; indistinguishable from patients with classic LND.

  • >8% enzyme function - Manifestations only include kidney dysfunction.

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.

  • Ballism: Involuntary, rapid movement of limbs

  • 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 (SIB)

Without prevention and intervention, self-mutilating behaviors can lead to significant injury and trauma. Consult medical team for prevention and intervention.

Self-injurious behavior may include:

  • Biting of the lips, fingers, and/or hands

  • Headbanging

  • Scratching

  • Aggressiveness

  • Vomiting and spitting