What is Tay-Sachs Disease?

Tay-Sachs disease is a health condition in which harmful quantities of a fatyy substance called ganglioside GM2 build up in tissues and nerve cells in the brain.

The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A because of defective genetics. The enzyme catalyzes the biodegradation of acidic fatty materials known as gangliosides, which are made and biodegraded rapidly in early life as the brain develops.

Babies with Tay-Sachs disease do not have any symptoms during the first few months of life. Afterwards, a relentless deterioration of mental and physical abilities occurs because nerve cells become distended with the fatty substance.

As a result, the child becomes blind, deaf, and unable to swallow. Muscles start to atrophy and paralysis sets in. Other neurological conditions that may follow include dementia, seizures, and an increased startle reflex to noise. 

One form of the disease may occur in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration.

People with Tay-Sachs also have "cherry-red" spots in their eyes. 

Tay-Sachs is particularly found high among people of Eastern European and Askhenazi Jewish descent. 

How is Tay-Sachs disease diagnosed?

Tay-Sachs disease can be diagnosed by a simple blood test that measures beta-hexosaminidase A activity. 

Both parents need to carry mutated gene to have an affected child. The chance for them to have a child with the condition is 25 percent.  Prenatal diagnosis is available.

Is there any treatment?

currently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may be used to initially control seizures. Other forms of treatment may be merely supportive.  Children with the disease may eventually need a feeding tube.

What is the prognosis?

Children with Tay-Sachs disease usually die by age 4, from recurring infection even if they receive best care.

JD