Tay Sachs Disease : Definition
Tay Sachs disease is a fatal genetic lipid storage disorder in which dangerous amounts of ganglioside GM2 (which is a type of fatty substance) build up in tissue and nerve cells in the brain.
The Discovery of Tay-Sachs
The disease was named after a British ophthalmologist Warren Tay who described the disease in the year of 1881. In 1887 a New York neurologist Bernard Sachs described the cellular changes and the genetic nature of the disease.
What Causes Tay-Sachs?
The cause of Tay-Sachs is a defected gene on chromosome 15 (look at picture below), with the defected gene, that causes the body to be incapable of making a special protein called Hexosaminid A. Hexosaminid A is caused by a deficiency in a enzyme called beta-hexosaminidase A. That enzyme helps break apart a certain fatty acid called GM2 ganglioside. Without that protein a chemical builds up messing with the nerve cells causing them to destroy the brain cells. This disorder is also heredity with means that it is passed through families not strangers surrounding you.
Symptoms of Infants with Tay-Sachs
Affected infants may have nerve damage before there even born, but when born the symptoms tend to appear around the ages of 3-6 months old. The rapid progressions can sometimes limit a child's life time between 4-5 years old. Although some kids with a juvenile form can see symptoms of Tay-Sach between ages 2-10 and usually die at around age 15
Symptoms of Tay-Sachs for Infants:
- a relentless deterioration of mental and physical abilities occur
- muscle strength decreases
- increase startle reflex to noise
- muscles begin to a atrophy and paralysis sets in
- growth may be slow
Symptoms of Other Forms of Tay-Sachs
Adults are capable of developing this too, it could be described as "the mildest form". You can start to recognize symptoms during adulthood or adolescent (the process of changing from a child to an adult). Some of the symptoms are:
- slurred speech (poor pronunciation of words,mumbling, change in speed and rhythm during talking
- muscles tend to weaken
- memory loss
- tremors (an involuntary quivering movement)
- unsteadily gait
Diganosis of Tay-Sachs
There are test out there that can be preformed to determine if an individual has this disease/disorder. Prenatal tests such as amniocentesis ( a sampling of amniotic fluid that allows you to screen for development abnormalities in a fetus), also Chorionic Villus sampling (a test preformed during pregnancy to see if the unborn child has the risk for congenital defects). The test/tests are normally done when both parents have the disease. If the child is already born there are symptoms that they will demonstrate and their doctor can collect family history, do an enzyme analysis, physical examination, and do an eye exam to see if a cherry red spot has appeared in the center of the eyes macula.
Risks of Tay-Sachs
Tay-Sachs is a very rare disorder. If both parents have this disorder their children becomes a possible carrier, but if only one parent has it, the child could have a possibility on passing on this disorder to their own child which mean the child could become a possible candidate for Tay-Sachs. This disease is more common to the people of Ashkenazi ( eastern and central Europe) a Jewish heritage. According to Center for Jewish Genetics "1 in 25 Jews is a carrier of the genetic disorder Tay-Sachs disease".
Treatment of Tay-Sachs
Sadly there isn't a cure yet for Tay-Sachs. According to Healthline the treatment is typically to keep the child comfortable, that is called "palliative care". Palliative care is a medical care for people with a serious illness; providing patients with relief from symptoms, physical stress, mental stress, and pain. Like said earlier there is no cure but help and support from family members can be very comforting and knowing that someone is there for you may take some of the stress off.