- by Dr Reginald Varadarajulu VSM
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- Feb 19 2018
Tay Sachs Disease: Causes and Symptoms
It is a disease of central nervous system and it is a neurodegenerative disorder that most commonly affects infants. It can also occur in teens and adults, causing less severe symptoms, although this occurs more rarely.
A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not to make a protein called hexosaminidase A. in the absence of this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells. It is hereditary in nature.
It is most common among Ashkenazi Jews. Approximately one in 30 people in the American Ashkenazi Jewish population is a Tay-Sachs carrier. It cannot be prevented, but genetic testing is done to see if you are a carrier or if your fetus has a disease.
Most affected infants have nerve damage starting in utero (before birth), with symptoms appearing from age 3 to 6 months, in most cases. Symptoms include:
- Progressive blindness
- Decreased muscle strength
- Increased startle response
- Paralysis or loss of muscle function
- Muscular stiffness
- Delayed mental and social development
- Red spot on the macula
- Difficulty in swallowing
Symptoms of other forms of Tay-Sachs
People with the juvenile form of Tay-Sachs typically display symptoms between the ages of 2 and 10 and usually pass away by age 15.
Those with the chronic form of Tay-Sachs develop symptoms by the age of 10, but the disease progresses slowly. Symptoms may include slurred speech, muscle cramps, and tremors.
Adult Tay-Sachs is the mildest form. Symptoms appear during adulthood. They usually have symptoms such as muscle weakness, slurred speech, unsteady gait, memory problems, and tremors.
Prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta. If the child is displaying symptoms of Tay-Sachs, enzyme analysis can be done on the child’s blood or tissue samples, and an eye exam may reveal a red spot on their macula.
There is no cure for Tay-Sachs. “Palliative care” is needed, which include medication for pain, anti-epileptics to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus build-up in the lungs.
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