Lesch-Nyhan syndrome (LNS), also regarded as Nyhan’s syndrome. Lesch-Nyhan syndrome (LNS) is a rare genetic ailment characterised by an overproduction of uric acid, neurological incapacity, and behavioral troubles. Irregular involuntary muscle movements these kinds of as flexing, jerking, and flailing are typically displayed by persons afflicted with this ailment. Self-damage can start as youthful as two yrs of age. Self-damage can start as late as 10 or twelve yrs of age. Some boys with Lesch-Nyhan disease in no way become self-injurious. Persons with Lesch-Nyhan syndrome ordinarily are unable to stroll, need to have aid sitting, and are typically wheelchair-sure.
Lesch Nyhan syndrome is prompted by a mutation in the HPRT gene on the X-chromosome, ensuing in a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The gene is recessive and occurs on the X chromosome. Consequently only boys show the disease. Women are carriers. HPRT is involved in the recycling of purines. Hyperuricemia can consequence in gouty arthritis, tophi and kidney stones. This affliction occurs with a very similar frequency in all populations. Commonly the initial symptom is the presence of orange-colored crystal-like deposits (orange sand) in the diapers of afflicted infants.
The deposits, which are known as urate crystal formation, are prompted by greater ranges of uric acid in the urine. Added indicators of LNS may perhaps comprise kidney stones, blood in the urine, soreness and inflammation of the joints, problems swallowing (dysphagia) and having, and vomiting, impaired kidney perform, irritability, uncontrolled intense and/or compulsive steps, muscle weak point (hypotonia), uncontrolled spastic muscle movements, and neurological troubles these kinds of as involuntary writhing movements of the arms and legs (athetosis) and purposeless repetitive movements these kinds of as shoulder boosting and decreasing and/or facial grimacing.
Average psychological retardation is also common. Some individuals may perhaps produce a rare ailment known as megaloblastic anemia. Treatment for Lesch Nyhan syndrome is symptomatic. Some indicators may perhaps be assuaging with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. Administration of the behavioral troubles, and significantly the self-injurious actions, can be really challenging. Behavioral extinction techniques with favourable reinforcement are most beneficial procedures involving negative reinforcement are not beneficial and may perhaps even exacerbate the actions troubles.
By Juliet Cohen
