General Information
DEFINITION--An inherited, rare disorder of the central nervous system in infants
and young children. It causes progressive impairment and early death. Less than 100
children are born with the disease each year in the U.S.
BODY PARTS INVOLVED--Brain and central nervous system.
SEX OR AGE MOST AFFECTED--Infants and young children (up to age 5).
SIGNS & SYMPTOMS--
The child seems normal at birth. Between 3 and 6 months, the following symptoms begin
to appear:
- Loss of alertness and retarded mental development.
- Loss of muscle strength, such as difficulty sitting up or turning over.
- 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 Ashkenazim Jewish or French Canadian
ancestry.
RISK INCREASES WITH--Genetic factors. Most parents who carry the recessive gene
are of Eastern European Jewish origin (Ashkenazi).
HOW TO PREVENT
- Obtain genetic screening for children in families with Tay-Sachs.
- Obtain genetic counseling if you or your spouse have a family history of Tay-Sachs or
are of Ashkenazi background.
- If you are expecting a child and have a family history of Tay-Sachs, consider
amniocentesis (See Glossary) to detect if the fetus has the
disease.
What To Expect
DIAGNOSTIC MEASURES--
- Your own observation of symptoms.
- Medical history and physical exam by a doctor.
- Laboratory blood tests to detect the hexosaminidase A enzyme deficiency.
APPROPRIATE HEALTH CARE
- Doctor's treatment.
- Time in an extended-care facility for basic care if parents are unable to provide it at
home.
- Psychotherapy or counseling for parents and siblings to learn to cope with the distress
produced by this condition.
POSSIBLE COMPLICATIONS
- Pneumonia.
- Pressure sores.
PROBABLE OUTCOME--Death usually occurs before age 5.
How To Treat
GENERAL MEASURES--
- If you care for your child at home, you will need training on how to do suctioning,
postural drainage, tube feeding and how to provide good skin care to prevent pressure
sores. Ask your doctor for information about getting the help you need.
- Seek out support groups for families of Tay-Sachs victims.
- See Resources for Additional Information.
MEDICATION--Your doctor may prescribe:
- Anticonvulsants to control seizures.
- Stool softeners and laxatives to relieve constipation.
- Other medicines to control complicating disorders as they arise.
ACTIVITY--In the early stages, encourage the child to be as active as possible.
Increasing mental, nervous and muscular deficiencies will eventually confine the child to
bed much of the time.
DIET--Provide adequate fluids and a normal, high-fiber diet to minimize
constipation. Feeding by tube usually becomes necessary as the disease progresses.
Call Your Doctor 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.
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