*

Definition  

Tay-Sachs disease (TSD) is a genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms:

  • Infantile-onset
  • Juvenile-onset
  • Adult-onset

Given the best of care, all children with the infantile form die by the age of five.

*
Genetic Material  
Chromosome_DNA

Copyright © Nucleus Medical Media, Inc.

Causes  

TSD is caused by the absence of an enzyme. This enzyme is needed to break down a fatty substance called ganglioside (GM2). As a result, GM2 builds up. The build up in the brain causes damage.

TSD occurs when both parents pass on the faulty genes. A person can have just one copy of the faulty gene. In this case, there are no symptoms. The person is called a carrier.

*

Risk Factors  

Factors that increase your chance for TSD include:

  • Having parents who are carriers of the TSD gene
  • Race: Eastern European (Ashkenazi) Jewish descent
  • TSD is also frequently found in French Canadian and Cajun populations
*

Symptoms  

Babies with TSD may seem to develop normally until about 4-5 months of age when symptoms begin to occur. Symptoms may include:

  • Floppy body position
  • Shrill cry
  • Decreased eye contact
  • Increased startle reaction
  • Loss of motor skills
  • Enlarged head
  • Vision loss or blindness
  • Deafness
  • Difficulty swallowing
  • Muscular difficulties such as spastic muscles, weakness, or paralysis
  • Intellectual disability
  • Seizures

In some cases, the symptoms do not begin until age 2-5 years old. The condition progresses slowly, but most children with Tay-Sachs disease do not live beyond age 15 years. Symptoms may include:

  • Loss of the ability to speak
  • Developmental delay and intellectual disability
  • Loss of bowel control
  • Sleep problems
  • Movement disorder such as difficulty walking and muscle weakness
  • Tremor
  • Slurred speech
  • Psychiatric problems
  • Loss of vision
  • Spasticity and seizures
*

Diagnosis  

The doctor will ask about your child's symptoms and medical history. A physical exam will be done. The doctor may examine your child's eyes to look for a cherry red spot on the retina.

Your child's bodily fluids may be tested. This can be done with blood tests.

*

Treatment  

There is presently no treatment for TSD. Treatment is aimed at managing symptoms.

*

Prevention  

There are no known ways to prevent Tay-Sachs disease. If you are a carrier of the gene that causes TSD, you can talk to a genetic counselor before deciding to have children. Prenatal testing during the first trimester is available.