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Created with Fabric.js 1.4.5 LESCH-NYHAN SYNDROME How Many People Are Affected? Symptoms 2 10 15 20 25 30 35 40 How Is It Inherited? About 1 out of 380,000 individuals 95% male5%female its is recessive sex-linked only found on the x-chromosome Treatment NO specific treatment exist but some symptoms may be relieved with carbidpa/evodpa, diazepam, phenobarital, haloperidol What Age Does It Start At And End At ? 2-20s/30s 40s if lucky What Gender Does It Appear In ? xx delayed motor development abnormal movementsincreased reflexes to much uric acid self destructed behavior-chewing off fingertips and lips Interesting Facts It occurs evenly among races. Almost always, only male children are affected, although few cases of the disorder in girls has been reported. Women carriers usually do not have any symptoms. Women carriers can occasionally develop inflammation of the joints (gout) as they get older What Is It? A rare inherited disorder transmitted as a sex-linked trait and causes by deficiency of an enzyme of purine metabolism: hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Affected individuals are normal in the first year of life and then develop, progressive, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis
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