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Lesch-Nyhan Syndrome          



Lesch-Nyhan Syndrome is a rare X-linked recessive disorder affecting approximately 1 out of 400,000 males.  It is characterized by excessive levels of uric acid in the blood, which may eventually lead to kidney damage.  Its symptoms include muscle spasms that cause jerky movements, and self-injurious behavior such as compulsive biting of lips and tongue.  The pathology for these symptoms is not clearly understood.  Lesch-Nyhan Syndrome may also lead to physical and mental retardation as well as Nephrolithiasis, urinary tract stones and may impact brain development.


Symptoms of Lesch-Nyhan Syndrome usually present themselves early in infancy.  Sand-like crystals appear in diapers of infants.  Infants affected with Lesch-Nyhan Syndrome may also seem unusually irritable and unable to lift his or her head at age 4-6 months.  They may also display uncontrolled writhing motions and have poor motor development.


There is currently no cure for Lesch-Nyhan Syndrome.  Treatments include medication to lower uric acid levels in the blood.  Patients must closely monitor their fluid intake to ensure that they are well hydrated.  Parents with children inflicted with Lesch-Nyhan Syndrome must take special precautions in their household, such as padding any sharp corners, to prevent further injury when their children uncontrollably engage in self-destructive behavior.


Individuals with Lesch-Nyhan Syndrome and their families are recommended to undergo genetic counseling and testing.  Lesch-Nyhan Syndrome rarely occurs among females and female carriers typically do not show any symptoms but have a 50% chance of passing on the defective gene to her children.  A new test is now available to reduce the risk of passing on a genetic disorder, such as Lesch-Nyhan Syndrome, to children.  This test is called Preimplantation Genetic Diagnosis (PGD).  PGD tests an embryo for genetic defects and determines its sex prior to implantation.  Through this mechanism, the chance of having an affected can be significantly reduced.  Inheritance patterns can be very complex therefore a thorough genetic evaluation by an experienced genetic counselor can determine whether PGD will be beneficial.  PGD is also available for a number of other genetic diseases and is continually being improved to include others.



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Last modified: 06/09/04