Tay-Sachs Disease

(TSD)

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 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

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.
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

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. 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

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