Causes
The mutation in this gene causes LNS.
What is HPRT1?
A person can identify if they inherited the mutation or not by this form of testing.
What is Genetic Testing?
LNS is characterized by these characteristics.
What are neurological and behavioral abnormalities and the overproduction of uric acid?
This doesn’t exist for those with LNS.
What is a cure?
This uses human volunteers to help researchers learn more about a disorder.
What are clinical trials?
LNS is a disorder passed down from mothers to their sons.
What is an inherited metabolic disorder?
These signs help identify LNS.
What are developmental delays, excess uric acid through a blood or urine test, and self-injury behavior?
The buildup of uric acid causes these symptoms.
What is severe gout, poor muscle control, and moderate developmental disabilities, which appear in the first year of life?
These individuals may help care for those with LNS.
What is a genetics specialist (geneticist), kidney specialist (nephrologist), nervous system expert (neurologist), occupational therapist, pediatrician, physical therapist, social worker, speech-language pathologist, and a urologist?
The goal for conducting research.
What are better ways to safely detect, treat, or prevent the disease?
LNS can affect families with no history of this genetic disorder. In these cases, LNS is caused by this.
What is a mutation in HPRT1?
These prenatal tests help identify LNS during pregnancy.
What is amniocentesis and chorionic villus sampling?
These are some neurological symptoms in individuals with LNS.
What is facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to Huntington's disease?
A healthcare provider may recommend these treatments for someone with LNS.
What are medications to treat excess uric acid or ease behavioral problems, feeding or swallowing support, supportive equipment like a wheelchair to aid mobility, physical and occupational therapy, protective devices such as a splint or mouth guard to prevent involuntary movements such as finger biting, and procedures such as shockwave or laser lithotripsy to break up kidney or bladder stones?
These types of volunteers are needed to ensure study results apply to as many people as possible.
What are all types of volunteers are needed, those who are healthy or may have an illness or disease, of all different ages, sexes, races, and ethnicities?