Tay-Sachs Disease

A healthcare provider will diagnose Tay-Sachs disease after a blood test. To perform this test, a healthcare provider will remove a small sample of blood from your child’s body, either their heel or a vein in their arm. Their provider will measure the level of the enzyme hexosaminidase A in the blood sample. In a child with classic Tay-Sachs disease, this protein is mostly or completely missing. People diagnosed with other forms of the disease have low levels of this enzyme.

A provider may also do an eye exam to see if the child has the classic cherry-red spot in their eye.

Can Tay-Sachs be diagnosed during pregnancy?

Two specialized tests can diagnose Tay-Sachs disease during pregnancy:

Amniocentesis: Your healthcare provider will remove a sample of amniotic fluid (the fluid that surrounds a fetus in your uterus) to test it.
Chorionic villus sampling (CVS): Your healthcare provider will remove a small piece of tissue from the placenta to test it.

Both tests look for the enzyme hexosaminidase A. If there’s a below-average amount of this enzyme in the testing samples, your healthcare provider will diagnose the fetus with Tay-Sachs disease. In addition, they may perform a genetic test on these samples to identify a mutation in the HEXA gene, which causes the condition.

Symptoms

When to see a doctor

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Complications

Blood clots are a dangerous complication of atrial fibrillation (AFib). Blood clots can lead to stroke.

The risk of stroke from AFib increases as you grow older. Other health conditions also may increase the risk of a stroke due to AFib. These conditions include:

High blood pressure.
Diabetes.
Heart failure.
Some types of heart valve disease.

Blood thinners are commonly prescribed to prevent blood clots and strokes in people with atrial fibrillation.

Prevention

Healthy lifestyle choices can reduce the risk of heart disease and may prevent atrial fibrillation (AFib). Here are some basic heart-healthy tips:

Control high blood pressure, high cholesterol and diabetes.
Don't smoke or use tobacco.
Eat a diet that's low in salt and saturated fat.
Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
Get good sleep. Adults should aim for 7 to 9 hours daily.
Maintain a healthy weight.
Reduce and manage stress.

By Freedmans Health Clinic Staff

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