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Lesch-Nyhan syndrome: Symptoms, Cause and Treatment


What is Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome is an uncommon hereditary disorder which is mostly occur to the men. It is characterized by mental retardation and self mutilation and aggressive behavior.

Causes of Lesch-Nyhan syndrome

  • It is hereditary disorder because of mutations in the HPRT gene on the X chromosome.
  • These mutations are varies and contain single base substitutions, deletions, insertion.

Symptoms of Lesch-Nyhan syndrome

  • It is a hereditary disorder
  • Mostly occur to the male
  • Orange-colored crystal
  • Inability to lift the hand
  • Uncommon bend of back
  • Inability to walk and stand
  • Kidney stones
  • Blood in urine

Treatment of Lesch-Nyhan syndrome

  • Allopurinol and generous hydration are used to manage uric acid.
  • Benzodiazepines ( diazepam or alprazolam ) are useful to reduce severity and help attenuate anxiety.
  • Antispasticity agents ( baclofen or tizanidine ) are also helpful for the treatment of this disease.
  • Behavioral modification techniques and some medicine are useful to treat behavioural problem.
  • Gabapentin and carbamazepine are useful for attenuating problem behaviors.
  • Some medicine such as carbidopa, diazepam, phenobarbital, or haloperidol are prescribed for this disease.
 

Disclaimer: This site is for educational purposes only. The information provided should not be used for diagnosing or treating a health problem or disease. If you have, or suspect you have a health problem, you should consult your health care provider.