What Your Test Results Mean:

Carriers are not expected to show symptoms. You and your partner would both have to be carriers of Tay-Sachs disease for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Tay-Sachs disease is an inherited metabolic disorder that progressively destroys nerve cells in the brain and spinal cord. Over time, this can cause permanent cellular and tissue damage, particularly in the spleen, liver, bone marrow, and rarely, the brain. Individuals with Tay-Sachs disease typically have normal development in the first few months of life followed by regression of developmental milestones within the first year. With time, decreasing visual attentiveness, unusual eye movements, seizures, and progressive enlargement of the head become apparent. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder.

Prognosis:

Prognosis for Tay-Sachs disease is poor, as affected individuals typically die by the age of four.

Treatment:

There is no cure for Tay-Sachs disease. Treatment is mostly supportive and directed to providing adequate nutrition and hydration, managing infectious disease, protecting the airway, and controlling seizures.