Information From Your Health Care Provider

TAY-SACHS DISEASE

Basic information

description

Tay-Sachs disease is a rare, inherited disorder in which harmful quantities of a fatty substance build up in the central nervous system. The classic form causes progressive impairment and early death. Less than 100 children are born with the disease each year in the United States.

FREQUENT SIGNS & SYMPTOMS

The child seems normal at birth. Symptoms begin to appear before 6 months.
Loss of alertness and retarded mental development.
Loss of muscle strength, such as difficulty sitting up or turning over.
Unable to swallow.
Deafness.
Blindness.
Severe constipation caused by an impaired nerve supply to the colon.
Seizures.

causes

An inherited disease resulting from a recessive gene that causes enzyme deficiency. If both parents have the gene, they have a 25% chance of having a child with Tay-Sachs disease. If only one parent is a carrier, the children will not have the disease. The gene occurs in 1 out of 60 people of Ashkenazi Jewish or French Canadian ancestry.
Other forms of Tay-Sachs include:
- Juvenile form which appears about ages 2 to 5. Symptoms are like the classic form and death occurs by age 15.
- Chronic form may appear at age 5. Symptoms are like the classic form but are milder.
- Adult form, which appears between teens and 30s. Symptoms are like the chronic form.

risk increases with

Genetic factors. Many parents who carry the recessive gene are of Eastern European Jewish (Ashkenazi) or French Canadian origin.

PREVENTIVE MEASURES

A simple blood test can identify Tay-Sachs carriers. It can't be used in pregnant women. For pregnant women, an amniocentesis or chorionic villus testing can be done.
Obtain genetic counseling if you or your spouse have a family history of Tay-Sachs or are of Ashkenazi or French Canadian background.
Assisted reproductive technologies can be used to help at-risk couples have a non-affected baby.

expected outcomes

There is no cure or treatment. Death usually occurs before age 5 with the classic form. Research is ongoing.

possible complications

Symptoms progress to loss of all voluntary movement, which eventually causes death.

diagnosis & treatment

general measures

To make the diagnosis, your baby's health care provider will do a physical exam and an eye exam. A cherry-red spot at the back of the eye occurs in a baby with Tay-Sachs disease. A blood test will be done to confirm the diagnosis.
Treatment consists of providing comfort and support for the baby.
Counseling may help parents and siblings to learn to cope with the distress produced by this condition.
Join support groups for families of Tay-Sachs victims.
To learn more: National Tay-Sachs and Allied Disease Association, 2001 Beacon St., Suite 204, Brookline, MA 02146; (800) 906-8723; website: www.ntsad.org.

medications

Anticonvulsants to control seizures.
Stool softeners and laxatives to relieve constipation.
Other drugs to help with complications as they arise.

activity

In the early stages, encourage the child to be as active as possible. Increasing loss of mental, nervous, and muscular functions will eventually confine the child to bed much of the time.

diet

Provide plenty of fluids and a normal, high-fiber diet to reduce constipation. Feeding by tube usually becomes necessary as the disease progresses.

notify our office if

You are concerned about your infant's mental and physical development.
You think you or any member of your family carries the abnormal gene. A genetic counselor can advise you on how to prevent having children with this disease.