Tay Sachs Infection

What Is It?

Tay Sachs disease is an inherited disease brought on by an abnormal gene. People with this strange receptor don`t need an important enzyme called hexosaminidase A (Hex A ) which helps break down a fatty material called ganglioside GM2. damages nerve cells, also this material builds up in your brain also causes neurological problems.

Infants start to show signs of this disease between a few months and six months old. Children with Tay Sachs disease may get blind, deaf and paralyzed, and usually die by the age of 5.

Tay Sachs disease is an autosomal recessive inherited disorder, meaning a young child inherits a copy of this gene from each parent. The parents do not have the disease, but take the Tay Sachs gene and pass it on to the child. If both parents have the strange Tay Sachs receptor, then there`s really a probability that their child will inherit the gene from them both also possess Tay Sachs illness.

Disorder is most prevalent in Ashkenazi Jews. About one in 30 people with this particular ancestry take a duplicate of the gene. Some non-Jewish groups have a higher probability of carrying out the disease. They include people whose ancestors have been french canadian, from the Louisiana bayou, or even from Amish populations in Pennsylvania.

Three sorts of conditions are included in this is of Tay Sachs disease only because the exact identical gene affects.

• A form generally occurs between ages 5 and 2. The symptoms resemble those with classic Tay Sachs disease, and death usually occurs by age 15 20. The signs could be milder In case the symptoms arise after age 5.

• An adult sort, called, or LOTS, looks like the chronic kind but looks later in life, between the 30s and the teens. This really is very rare.

Other titles for Tay Sachs illness comprise cerebromacular degeneration , infantile ganglioside lipidosis, Tay Sachs sphingolipidosis, GM2 gangliosidosis Type 1, and familial idiocy.

Infection

Signs and symptoms of Tay Sachs disease can contain:

• Lack of muscle tone

• Exaggerated response

• Lack of energy

• Lack of motor abilities, such as the capability sit up, crawl, reach for items or to roll over

In its form, the disease causes a gradual loss of vision, deafness, seizures, and gradual paralysis and dementia. Red spots may appear on the retina (in the eye).

Diagnosis

Tay Sachs illness may be diagnosed before birth, through chorionic villus sampling or amniocentesis. In amniocentesis, a needle is inserted into the uterus and a sample of amniotic fluid is removed for testing. In chorionic villus sampling (CVS), a thin tube is inserted through the cervix and is used to extract a small sample of the placenta for testing. If you are thinking about having a child, your partner and you can have a blood test to see whether the Tay Sachs illness receptor is being carried by you. Your doctor can do a blood test to see whether your child has Tay Sachs illness.

Expected Duration

Tay Sachs disease is a lifelong condition.

Prevention

Genetic may help both parents understand the odds they will have a child with Tay Sachs illness. If both parents-to-be are carriers and the woman is pregnant, amniocentesis or chorionic villus sampling can determine whether the fetus gets got the disease.

Procedure

There`s not any successful treatment for Tay Sachs illness. As with other fatal diseases, treatment is aimed at which makes the child and family more comfortable and alleviating symptoms.

When To Call A Professional

Any child or adult revealing neurological problems should be evaluated by a doctor.

Prognosis

Classic infantile Tay Sachs disease is a fatal disease and kids with this disease usually die by age 5. Juvenile Tay Sachs is fatal, with death occurring in adolescence or early adulthood. The prognosis for the adult form is not known.

External resources

National Tay Sachs & Allied Disease Association2001 Beacon StreetSuite 204Brighton, MA 02135tollfree: -LRB-800-RRB- 906-8723Fax: -LRB-617-RRB- 277-0134 http://www.ntsad.org/

National Institute of Neurological Disorders and StrokeP.O. Box 5801Bethesda, MD 20824Toll Free: -LRB-800-RRB- 352-9424 http://www.ninds.nih.gov/

National Organization for Rare Disorders, Inc.. P.O. Box 8923New Fairfield, CT 06812-8923Phone: -LRB-203-RRB- 746-6518tollfree: -LRB-800-RRB- 999-6673Fax: -LRB-203-RRB- 746-6481 http://www.rarediseases.org/

March of Dimes Birth Defects Foundation1275 Mamaroneck Ave.White Plains, NY 10605Toll Free: -LRB-888-RRB- 663-4637 http://www.modimes.org/

Further advice

Always seek advice from with your healthcare provider to make sure the information displayed on these pages applies to your circumstances.