Tay-Sachs Disease

Written by Medicine and Health. Posted in Brain & nerves, Disease, Condition & Injury, Head & neck conditions

Tay-Sachs disease – Definition

Tay-Sachs disease (TSD) is a fatal 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.

Tay-Sachs disease – Causes

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

TSD occurs when both parent 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.

Tay-Sachs disease – 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

Tay-Sachs disease – Symptoms

Babies with TSD may seem to develop normally until about 4-5 months of age. There is then an arrest of development. 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 (eg, 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 (eg, gait disturbance, muscle weakness, loss of the ability to walk)
  • Tremor
  • Slurred speech
  • Psychiatric problems

Tay-Sachs disease – 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 doctor may also order:

  • Blood test — to measure hexosaminidase A activity

Tay-Sachs disease – Treatment

There is presently no treatment for TSD. However, research is ongoing.

Tay-Sachs disease – 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.

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