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.