A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.
Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.
Some examples of genetic brain disorders include
- Leukodystrophies
- Phenylketonuria
- Tay-Sachs disease
- Wilson disease
Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.
Diagnosis
Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include
- Tests on a few drops of blood from pricking the baby’s heel. The tests look for inherited disorders. All states test for at least 30 of these conditions.
- A hearing test that measures the baby’s response to sound
- A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect.
These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.
If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.
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