What does LNS mean in HOSPITALS

Lesch—Nyhan Syndrome (LNS) is a rare inherited disorder that affects the metabolism of purines, leading to severe neurologic and physical disability and early onset of gout. It can also lead to involuntary movements, mental retardation, behavior problems, kidney and bladder dysfunction and an exaggerated response to calcium.

Lesch-Nyhan syndrome is an X-linked disorder caused by a genetic mutation found on the X chromosome. This means that it primarily occurs in males, as a female would need two copies of the mutation to develop the condition. Females may be carriers but generally do not show symptoms.

While there currently is no cure for LNS, there are treatments available which help reduce some of the symptoms associated with this disorder including medications, physical therapy, diet modification and speech therapy. However these treatments cannot stop or reverse any of the organ damage caused by LNS.

The signs and symptoms vary among individuals affected by LNS however they may include involuntary movements such as writhing or jerking; self-destructive behaviors including head banging or biting; learning disabilities; neurologic issues related to balance control and coordination; vision problems; recurrent urinary tract infections; gout attacks appearing during infancy or early childhood; kidney stones; frequent urination; difficulty speaking correctly due to uncontrollable mouth movements.

Medical care for someone living with LNS should involve a multi-disciplinary approach from several specialists such as pediatricians, neurologists, urologists, endocrinologists, physical therapists and social workers. Treatment should target reducing pain from gout flares or muscle spasms as well as maintenance of mobility through physical exercise programs. Additionally, diet modifications may be necessary in order to reduce uric acid levels which can aid in limiting symptom severity.

Testing for LNS typically involves blood tests to detect high levels of uric acid (hyperuricemia), genetic testing which looks at DNA samples from saliva or blood samples and neurological evaluations looking at balance control and coordination issues. Diagnosis can sometimes be made shortly after birth if family history indicates risk factors.

Yes - Untreated complications associated with Lesch Nyhan Syndrome can include kidney stones due to elevated uric acid levels in tissue fluid or urine; bladder infections due to weakened muscular walls leading to ineffective bladder emptying; joint pain due to metabolic changes associated with hyperuricemia resulting in arthritis or gout.

Yes — There are numerous support organizations dedicated solely towards helping families coping with this rare disease including the National Institutes of Health's Office of Rare Diseases Research program (ORDR); The registry established by United Leukodystrophy Foundation (ULF); The Disorder Database compiled by Genetic Alliance (GA); The Muscular Dystrophy Association's Greater New England Chapter (MDA); UCLH Rare Disease UK Network (UCLHRDN); International Child Neurological Association's website (ICNA).

Currently researchers are trying to understand why some people develop more severe forms of this disorder than others who possess the same genetic defect. They are also looking into ways that medications could improve liver function which could possibly lower uric acid levels within cells leading to improved clinical outcomes with fewer side effects.

Unfortunately since this is an inherited genetic disorder no preventative measures can be taken against its development as it relies solely upon genes passed down through generations rather than one's lifestyle choices.[END