Overview

Tay-Sachs disease is a rare disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child's brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death.

If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, doctors strongly recommend genetic testing and genetic counseling.

Source: http://www.mayoclinic.com

Symptoms

In the most common form, an infant usually begins showing symptoms by about 6 months of age. Signs and symptoms of Tay-Sachs disease can include the following:

• Loss of motor skills, including turning over, crawling and sitting up
• Exaggerated reactions when the baby hears loud noises
• Seizures
• Vision and hearing loss
• "Cherry-red" spots in the eyes
• Muscle weakness
• Movement problems

When to see a doctor

If your child has any of the signs or symptoms listed above, schedule an appointment with your child's doctor.

Source: http://www.mayoclinic.com

Causes

Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits the gene from both parents.

Source: http://www.mayoclinic.com

Diagnosis

To confirm that your baby has Tay-Sachs disease, your doctor will ask you about the child's symptoms and any hereditary family disorders and will order a diagnostic blood test.

The blood test checks the levels of an enzyme called hexosaminidase in the child's blood. The levels are low or absent in Tay-Sachs disease.

While performing a careful eye exam of your child, the doctor may see a cherry-red spot in the back of the child's eyes, which is a sign of the disease. You may need to see a pediatric neurologist and an ophthalmologist for nervous system and eye examinations.

Source: http://www.mayoclinic.com

Coping and support

Ask your child's doctor to suggest resources and information to help you and your family cope with your child's needs. Look for local support groups to connect you with other families who are sharing similar challenges.