Tay-Sachs Disease
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Tay-Sachs Disease

What Is Tay-Sachs Disease?

Tay-Sachs is a disease of the central nervous system. It is a neurodegenerative disorder that most commonly affects infants. In infants, it is a progressive disease that is unfortunately always fatal. Tay-Sachs can also occur in teens and adults, causing less severe symptoms, although this occurs more rarely.

What Are the Symptoms of Tay-Sachs?

Symptoms

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 911 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.

What Causes Tay-Sachs?

Causes

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.

What Are the Risk Factors for Tay-Sachs?

Risk Factors

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.

How Is Tay-Sachs Diagnosed?

Diagnosis

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 Treated?

Treatment

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.

Screening to Help Tay-Sachs Disease

Prevention

Because Tay-Sachs disease is inherited, there is no way to prevent it except through screening. You can screen for carriers of the Tay-Sachs disease by doing genetic testing on two parents who are thinking about starting a family. Screening for carriers of Tay-Sachs was started in the 1970s, and has reduced the number of Ashkenazi Jews born with Tay-Sachs by 90 percent.

Talk to a genetic counselor if you are thinking about starting a family and you or your partner think you might be carriers for the Tay-Sachs disease.

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