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Lesch-Nyhan Disease

Lesch-Nyhan disease (LND) is a rare neurodevelopmental disorder that involves recurrent self-mutilation, impaired cognition, and motor abnormalities. Because LND is an X-linked, recessive disorder, virtually all patients are male. Although the genetic defect is present from the time of conception, the first symptoms do not emerge until 3 to 12 months of age. Infants with LND first show delayed motor development and hypotonia (i.e., floppy baby syndrome). By 6 to 18 months, they display involuntary, spastic movements, and by 2 to 3 years, they begin to self-injure and exhibit other behavioral abnormalities. Persons with LND feel pain and cry out when they hurt themselves. They can bite their lips, tongues, and fingertips to the point of inflicting severe tissue damage. To minimize injury, most ...

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