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.

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