Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. read more
Tay-Sachs is a disease of the central nervous system. It is a neurodegenerative disorder that most commonly affects infants. In infants, it is a progressive disease that is unfortunately always fatal. Tay-Sachs can also occur in teens and adults, causing less severe symptoms, although this occurs more rarely. read more
There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: Medication. To reduce your child's symptoms, a number of prescription medications are available, including anti-seizure medications. Respiratory care. read more
Patients with late-onset Tay-Sachs disease are usually diagnosed in adolescence or early adulthood. Initial symptoms may include difficulties in speech, coordination and muscular control. Once again, the diagnosis can be confirmed with a blood test. read more