Tay-Sachs Disease

Tay-Sachs disease exists on a spectrum with three onset levels. When diagnosing the disease, healthcare providers will determine the onset level based on the age of the affected individual when symptoms first appear.

Tay-Sachs disease is an autosomal recessiveDescribes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes). More genetic disorder where the reduced or absent activity of an enzymeAccording to Genome.gov, an enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. More called beta-hexosaminidase A (HexA) causes fatty substances to build up in the brain and nerve cells, which damages the brain and spinal cord.

You might see Tay-Sachs referred to as “GM2 gangliosidosis” or “GM2” in scientific literature.

There is currently no cure for Tay-Sachs, but there are treatments and therapies to manage symptoms and maintain a baselineBaseline is a technical term for “the new normal” or how things looks when they are stable. With Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases, the baseline shifts, and often it shifts down over time like steps, where each lower step represents a lower level of functioning. More of symptoms for as long as possible.

Getting a diagnosis can be overwhelming. It’s hard to know what to do first. Our Family Services Team is here to help. They’ll answer your questions, share information, and invite you to connect with our caring and helpful Community.