Tay-Sachs disease is a rare, inherited genetic disorder for which there is no cure and treatment is essentially limited to relieving symptoms. Classified as a lipid storage disease, this health condition is caused by an enzyme deficiency.
The brain’s nerve cells are destroyed in those with Tay-Sachs disease because of a ganglioside build up. This fatty substance accumulation occurs as the result of a deficit in hexosaminidase, an enzyme that catalyzes their breakdown.
The genetic mutation for Tay Sachs disease most frequently is carried by descendants of:
- Louisiana Cajuns
- Central & Eastern European Jews
- Old Order Amish in Pennsylvania
- French-Canadians, St. Lawrence River Valley, Quebec
Both parents must carry the mutated gene in order for Tay-Sachs disease to materialize.
There are different forms of Tay-Sachs because its onset and disease progression varies. Therefore, the health information is grouped into infantile, juvenile or adult.
Infantile Tay-Sachs disease typically begins to develop within the first few months after birth. As the nerve cells become impacted by fatty material, the resulting neurological deterioration causes numerous mental and physical symptoms. Some of the symptoms related to early onset of Tay-Sachs disease are:
Because of the rapid neurological decline, most with this form of Tay-Sachs die before their 3rd birthday, often due to recurrent infections, particularly aspiration pneumonia, heart failure and/or lung failure.
Tay-Sachs juvenile form typically presents a couple of years into life and mimics those symptoms of infantile, just with a slower progression. The disease frequently causes death before the age of majority.
The adult form of Tay-Sachs can present anytime from childhood through early adulthood. Generally, you’ll experience a milder form of the disease because your body is producing a bit of the otherwise missing enzyme. Symptoms of the later in life type of Tay-Sachs do differ and may cause:
- ataxia
- dystonia
- hypotonia
- unsteady gait
- slurred speech
- muscle spasms
- poor coordination
- muscle weakness
- memory problems
Your vision and hearing probably will not be a loss. And for some, life expectancy seems to be unchanged.
Unfortunately, there’s no enzyme replacement nor any other treatment for stopping the progression of Tay-Sachs disease. Symptom relief and supportive treatment is administered to increase comfort, which may involve:
- anticonvulsants
- airway maintenance
- nutritional support to prevent malnutrition
- intravenous hydration to prevent dehydration
A prenatal test and amniocentesis can be performed ahead of birth to determine if your fetus has Tay-Sachs disease. Also, genetic testing for Tay-Sachs is recommended prior to conception is you are a descendant of aforementioned populations.
Sandhoff disease is another lipid storage disease that’s similar to this health condition.