Definition

What is Tay-Sachs disease?

Tay-Sachs disease is a rare disorder passed from parents to child. In the most common form, a baby about 6 months old will begin to show symptoms.

Tay-Sachs disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child’s brain and affect the nerve cells. As the disease progresses, the child’s body loses function, leading to blindness, deafness, paralysis and death.

There is no cure for Tay-Sachs disease. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease.

How common is Tay-Sachs disease?

Tay-Sachs disease occurs most frequently among people whose ancestors come from Eastern and Central European Jewish communities (Ashkenazi Jews), from certain French Canadian communities in Quebec, the Old Order Amish community in Pennsylvania and from the Cajun community of Louisiana. A child who inherits the gene from both parents develops Tay-Sachs disease. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Tay-Sachs disease?

Symptoms of infantile Tay-Sachs

Most affected infants have nerve damage starting in utero (before birth), with symptoms appearing from age 3 to 6 months, in most cases. Progression is rapid, and the child will typically pass away by 4 or 5 years old.

Symptoms of Tay-Sachs in infants include:

  • Deafness
  • Progressive blindness
  • Decreased muscle strength
  • Increased startle response
  • Paralysis or loss of muscle function
  • Seizure
  • Muscular stiffness (spasticity)
  • Delayed mental and social development
  • Slow growth
  • Red spot on the macula (an oval-shaped area near the center of the retina in the eye)

Emergency symptoms

If your child has a seizure or has trouble breathing, go to the emergency room or call an ambulance immediately.

Symptoms of other forms of Tay-Sachs

There are also late-onset juvenile, chronic, and adult forms of the disease, which are much more rare, but tend to be milder in severity.

People with the juvenile form of Tay-Sachs typically display symptoms between the ages of 2 and 10 and usually pass away by age 15.

Those with the chronic form of Tay-Sachs develop symptoms by the age of 10, but the disease progresses slowly. Symptoms may include slurred speech, muscle cramps, and tremors. Life expectancy varies with this form of the disease, and some people have a normal lifespan.

Adult Tay-Sachs is the mildest form. Symptoms appear during adolescence or adulthood. People with the adult form of Tay-Sachs disease usually have these symptoms:

  • Muscle weakness
  • Slurred speech
  • Unsteady gait
  • Memory problems
  • Tremors

The severity of symptoms and life expectancy varies.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Tay-Sachs disease?

A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.

The disease is hereditary, which means it is passed down through families. You have to receive two copies of the defective gene — one from each parent — to become affected. If only one parent passes down the defective gene, the child becomes a carrier. They will not be affected, but may pass the disease down to their own children.

Risk factors

What increases my risk for Tay-Sachs disease?

There are many risk factors for Tay-Sachs disease, such as:

The disease is most common among Ashkenazi Jews. These are people whose families descend from the Jewish communities in Central or Eastern Europe. According to the Center for Jewish Genetics, approximately one in 30 people in the American Ashkenazi Jewish population is a Tay-Sachs carrier.

There is no way to prevent the disease, but you can have genetic testing done to see if you are a carrier or if your fetus has the disease. If you or your spouse is a carrier, genetic testing can help you make a decision about whether or not to have children.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Tay-Sachs disease diagnosed?

Prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease.

CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy and involves extracting a sample of the fluid surrounding the fetus using a needle through the mother’s abdomen.

If a child is displaying symptoms of Tay-Sachs, a doctor can perform a physical examination and collect a family history. Enzyme analysis can be done on the child’s blood or tissue samples, and an eye exam may reveal a red spot on their macula (a small area near the center of the retina of their eye).

How is Tay-Sachs disease treated?

There is no cure for Tay-Sachs. Treatment typically consists of keeping the child comfortable. This is called “palliative care.” Palliative care may include medication for pain, anti-epileptics to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus buildup in the lungs.

 

Emotional support for the family is also important. Seeking out support groups can help you cope. Taking care of a sick child is emotionally challenging and talking with other families combating the same disease can be comforting.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Tay-Sachs disease?

The following lifestyles and home remedies might help you cope with Tay-Sachs disease:

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: August 4, 2017 | Last Modified: August 4, 2017

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