Description Tay-Sachs disease i...
Description
Tay-Sachs disease is a fatal inherited disorder that results in nerve cell damage in the brain. Individuals with Tay-Sachs disease are born without a chemical (hexosaminidase A) that breaks down a fatty material called ganglioside GM2. If this material is not broken down, it will build up and cause damage to nerve cells. There are two forms of the disease. The common form occurs from birth and the other very rare form occurs between the teens and thirties. Individuals with Tay-Sachs disease may experience paralysis, deafness, blindness and death. The disease is most common among Ashkenazi Jews.
Symptoms
Symptoms may include loss of motor skills, deafness, blindness, seizures and dementia.
Tests
Common tests used for diagnosis and treatment
Workup:
A complete history and physical will be performed. The test can be diagnosed before birth with an amniocentesis (insertion of a needle to remove fluid from the sac containing the baby) and examination of fluid. After birth, a blood test can be performed to confirm the diagnosis.
Specialists:
Pediatrics, Pediatric Neurology
Workup:
A complete history and physical will be performed. The test can be diagnosed before birth with an amniocentesis (insertion of a needle to remove fluid from the sac containing the baby) and examination of fluid. After birth, a blood test can be performed to confirm the diagnosis.
Specialists:
Pediatrics, Pediatric Neurology
Treatment
There is no specific treatment for Tay-Sachs disease. Treatment will be aimed at treating symptoms and providing counseling for patients and parents.