What is Late Onset Tay Sachs?

Overview

Tay-Sachs disease is a rare inherited condition where the absence of an enzyme called beta-hexosaminidase A (HexA) causes fatty substances to build up in the brain and nerve cells, which damages the brain and spinal cord.

Individuals affected by late onset Tay-Sachs often have a small amount of HexA, which means the onset and progression of symptoms occur slower than in the infantile and juvenile forms of the disease.

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

Symptoms of late onset Tay-Sachs disease typically appear adolescence and into adulthood.

There is currently no cure for Tay-Sachs disease, but there are treatments to manage symptoms. The main symptom management issues for individuals affected by late onset Tay-Sachs are mobility, speech, and mental health.

Cause

Tay-Sachs disease is a rare genetic condition that’s passed from parents to children. It is a recessive disorder, which means that both parents must carry the gene for it to be passed on to a child.

Symptoms

Tay-Sachs disease exists on a spectrum, and every individual will experience it differently.

Often, individuals will reflect on their childhood and realize they experienced symptoms like speech difficulties or lack of athleticism long before receiving a diagnosis. Sometimes late onset Tay-Sachs is misdiagnosed as multiple sclerosis (MS) or amyotrophic lateral sclerosis (ALS).

Some of the first signs you may experience are:

• Clumsiness

• Muscle weakness in the legs

• Mental health symptoms, such a bipolar episodes or psychosis (Read more here about the psychiatric impact.)

As the disease progresses, you may experience:

• Gradual loss of skills, leading to the need for mobility assistance

• Difficulty speaking and swallowing