Tay-Sachs, a neurodegenerative disorder that often affects babies
Tay-Sachs is a
disease of the central nervous system that is a neurogenerative disorder. This
neurological disease is commonly experienced by babies and can be fatal.
Tay-Sachs can
also affect teenagers and adults, but symptoms are not as severe as those
experienced by infants and are less common.
Tay-Sachs is a disease caused by gene damage.
Tay-Sachs is
caused by a breakdown of a gene on chromosome 15 (HEX-A). Damage to this gene
causes the body to be unable to produce hexosaminidase protein A. Without the
protein hexosaminidase A, a chemical called gangliosides will accumulate in
brain nerve cells and destroy brain cells. When Tay-Sachs starts eating away at
the brain, the sufferer will lose muscle control. This condition can cause
blindness, paralysis, to death. Tay-Sachs is a hereditary disease. That means
both parents can reduce this disease in their children.
Symptoms of Tay-Sachs
Tay-Sachs
symptoms in infants, children, and adults vary in shape. In addition, the
beginning of the appearance of symptoms in infants, children, and adults is
also not the same.
Symptoms of Tay-Sachs in infants
Tay-Sachs
symptoms will usually appear when the baby reaches 6 months of age. However,
nerve damage has occurred since the baby is still in the womb. The development
of Tay-Sachs disease in the baby's body is speedy. Usually, babies with
Tay-Sachs will die at the age of 4-5 years. The following are the symptoms of
Tay-Sachs in infants to watch out for:
- Can't hear
- Blindness
- Weakened muscle strength
- The growing shock response
- Loss of muscle function
- Stiff muscles
- Late mental and social development
- The slow growth of the baby
- The appearance of red spots on the
macula (the area near the center of the retina).
If a baby
suffering from Tay-Sachs has convulsions or shortness of breath, take it to the
hospital immediately or call medical emergency services to prevent
complications.
Symptoms of Tay-Sachs in adolescents and adults
Compared to
infants, tay-Sachs cases in adolescents and adults are very rare. In addition,
the symptoms are considered milder. Not only that, tay-Sachs symptoms are
divided into three types, namely adolescent, chronic, and adult. Tay-Sachs
symptoms in adolescents generally appear at the age of 2-10 years, and
sufferers will live to 15 years. While chronic symptoms of Tay-Sachs will
usually appear at the age of 10 years, the development of Tay-Sachs this type
is considered slow. Symptoms include muscle cramps, tremors, and difficulty
speaking. Meanwhile, tay-Sachs symptoms in adults are considered the mildest.
Symptoms include:
- Weak muscles
- Slurred talk
- Hard to remember
- How to walk unbalanced
- Tremor.
The severity and
mortality rate of Tay-Sachs disease in adults varies, unlike in infants.
How to diagnose Tay-Sachs?
Tay-Sachs can be
diagnosed early using prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis. Generally,
genetic tests will also be done if the father and mother are carriers or
carriers of Tay-Sachs disease. Usually, CVS prenatal tests will be done when
the gestational age reaches 10-12 weeks. This test is done by taking a sample
of cells from the placenta through the stomach or vagina. Amniocentesis
is done when the gestational age reaches 15-20 weeks. This method is done by
examining a sample of amniotic fluid through a needle inserted into the
mother's stomach. Through these various tests, doctors can diagnose Tay-Sachs
in infants.
Can Tay-Sachs be treated?
Unfortunately,
until now, no treatment can cure Tay-Sachs. However, doctors can provide
palliative care to make babies suffering from this disease feel comfortable
with their circumstances. Palliative care includes the administration of pain
medication, drugs that can prevent seizures, physical therapy, installation of
food hoses, and treatment for the respiratory function to prevent mucus buildup
in the lungs. Family emotional support is also essential for Tay-Sachs
sufferers.
How to prevent Tay-Sachs
Since Tay-Sachs
is a hereditary disease, there is no way to prevent it except by screening.
Usually, the doctor will perform genetic tests on both father and mother to see
if a family history has experienced Tay-Sachs before.
