Tay-Sachs Disease



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 3 forms:
  • Infantile-onset—usually fatal before 5 years of age
  • Juvenile-onset—usually fatal in late childhood or adolescence
  • Adult-onset—may survive up to 60 years of age


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.
Genetic Material
Chromosome DNA
Copyright © Nucleus Medical Media, Inc.

Risk Factors

Having parents who are carriers of the TSD gene is the most common risk factor.TSD is found in specific ethnic groups:
  • Those of Eastern European (Ashkenazi) Jewish descent
  • French Canadians living in eastern Quebec and New England
  • Select Cajun populations in Louisiana
  • Non-Amish Pennsylvania Dutch


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. 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

leave comments
Did you like this? Share with your family and friends.
Related Topics:
Current Research From Top Journals

Music May Improve Sleep Quality in Adults with Insomnia
October 2015

Insomnia can make your days miserable and a cure can be hard to find. There are some medications but there is some worry with side effects and the potential for addiction. Music is side effect free and according to this study may help you find sleep.

dot separator
previous editions

CPAP May Help Older Adults with Obstructive Sleep Apnea
September 2015

Water Before Meals May Promote Weight Loss
August 2015

Fecal Transplants Induce Ulcerative Colitis Remission
July 2015

dashed separator


Our Free Newsletter
click here to see all of our uplifting newsletters »