The Tay-Sachs disease is a rare and incurable disease that affects the central nervous system and character inherited autosomal recessive (most common in descendants of Jews), usually infants seem to have no symptoms, but over time these symptoms develop.
For autosomal recessive we mean that the disease appears, you need two copies of the mutated gene in the genome of the person concerned, whose parents normally without the disease, but carry one copy each of the mutated gene, so it can pass on to offspring. The probability of having a child affected by an autosomal recessive between two people who carry one copy of the mutated gene (which do not manifest the disease) is 25%.
is a lysosomal storage disease and individuals with the disease are unable to produce a lysosomal enzyme called hexosaminidase-A involved in the degradation of gangliosides, a type of sphingolipid, which accumulate and degenerate central nervous system.
For lysosomal storage disease, we mean, which are diseases resulting from malfunction of the lysosomes, mostly due to problems with the enzymes it contains. May be due to dysfunction of a lysosomal enzyme or uncontrolled release of these enzymes in the cytosol, causing cell lysis.
The Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the defective gene for this disease, the child has a 25% chance of developing it. The child must receive two copies of the defective gene, one from each parent, to become sick. If only one parent passes the defective gene, the child is called a carrier and not be sick, but have the potential to transmit the disease to their children.
The Tay-Sachs disease has been classified into infantile form, juvenile and adult, depending on the symptoms and when they first appear. Most people with the disease have the infantile form, in which the nerve damage usually begins while the baby is still inside the uterus and the symptoms usually appear when the child is 3 to 6 months of age. The disease tends to worsen very quickly and the baby usually dies at the age of 4 or 5 years.
The Tay-Sachs disease, late-onset that affects adults, is rare.
SYMPTOMS
* Deafness.
* Reduced contact-and post VISULA blindness.
* Loss of muscle strength.
* Dementia.
* Delayed development of mental and social skills.
* Loss of motor skills.
* seizures.
* Slow growth and irritability.
Researchers are studying whether stem cell transplants (sometimes called bone marrow transplants) could help babies affected with Tay-Sachs disease. Stem cells are immature blood cells that produce all other types of blood cells. These cells are obtained from umbilical cord blood or bone marrow donor. Unfortunately, stem cell transplants have yet to stop or reverse the brain damage caused by Tay-Sachs disease
HOW IS IT DIAGNOSED THIS DISEASE BEFORE THE BIRTH OF THE BABY?
By prenatal tests called amniocentesis and chorionic villus sampling (CVS) can diagnose these diseases before birth. In amniocentesis, which is usually done between weeks 15 and 20 of pregnancy, the doctor inserts a needle into the mother's abdomen to take a sample of the fluid surrounding the fetus. This fluid contains fetal cells are analyzed for the presence of hex A (in the case of Tay-Sachs) or hex B (in the case of Sandhoff disease). In chorionic villus sampling, which is usually done between weeks 10 and 12 of pregnancy, the doctor takes a sample of cells from the developing placenta either through a thin tube inserted into the vagina or by inserting a needle into the abdomen of the mother . The placenta contains cells that are genetically identical to the fetus, which are analyzed for the presence of the enzyme.
If prenatal tests detect only hex A is missing, the baby will have Tay-Sachs classic.
HOW DO I KNOW IF IT IS CARRYING THE DISEASE?
can perform a test that measures the amount of hexosaminidase in the blood. In amount of hex A, carriers of Tay-Sachs disease are only half of what they have non-carriers, but this amount is more than sufficient for the needs of the carrier .
In our next installment TALK OF SUPPORT GROUPS FOR DEEPENING AND EXPERIENCE ON THE SUBJECT OF THIS DISEASE.
