Tay-Sachs disease is a progressive and fatal genetic disease that affects nerve cells in the brain. People with this disease do not have a specific enzyme called hexosaminidase A. This is exactly what causes the symptoms of this disease. You can find more information below.

What is Tay Sachs disease?

Tay Sachs disease ; It is a neurodegenerative disease of the central nervous system that often affects infants. It is a progressive genetic disease that is unfortunately always fatal in infants . Although rare, Tay Sachs disease can also occur in teenagers and adults. Although this condition rarely occurs, it causes less severe symptoms.

Tay Sachs disease causes and risk factors

A mutation in a gene on chromosome 15 causes Tay Sachs disease. This defective gene causes the body to not produce an enzyme called hexosaminidase A (HEX-A). The absence of this enzyme causes fat molecules called GM2 ganglioside to accumulate in nerve cells in the brain and destroy brain cells.

The disease is hereditary, meaning it runs in families. To be affected by the disease, two copies of the defective gene must be genetically inherited. (one from each parent) If only one parent passes on the defective gene, the child will be a carrier. In this case, the child will not be affected by the disease, but the transfer of the defective gene to their children will occur.

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Who is at risk?

The disease is most prevalent among Ashkenazi Jews. Ashkenazi Jews are people of descent from Jewish communities in Central or Eastern Europe. According to the Center for Jewish Genetics , about 1 in 30 people in the Ashkenazi Jewish population is a carrier of Tay Sachs disease.

There is no way to prevent the disease, but you can have genetic testing to see if you are a carrier or if your fetus has the disease. If you or your partner is a carrier, genetic testing can help you decide whether to have children.

Tay Sachs disease symptoms

Symptoms in babies

Most affected infants have nerve damage that begins before birth. In most cases, symptoms appear when the baby is 3 to 6 months old. Progression is rapid and the child typically dies at age 4 or 5.

Symptoms of Tay Sachs disease in infants include:

  • Deafness
  • progressive blindness
  • decreased muscle strength
  • Increased startle response (excessive startle response to external stimuli)
  • paralysis or loss of muscle function
  • Watch
  • Muscle stiffness (spasticity)
  • Delayed mental and social development
  • slow growth
  • red spot in eye

emergency symptoms

If your child has a seizure or has trouble breathing, you should go to the emergency room or call 911 immediately.

Symptoms of other forms of Tay Sachs disease

the disease; There are also late-onset juvenile, chronic and adult forms, which are much rarer and less severe in severity.

People with the juvenile form of this genetic disease usually show symptoms between the ages of 2 and 10, and symptoms usually go away by age 15.

Those with the chronic form of Tay Sachs disease develop symptoms by age 10, but the disease progresses slowly. symptoms; may include slurred speech, muscle cramps, and tremors. Life expectancy is variable, and some people have a normal lifespan.

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Tay Sachs disease in adults is the mildest form. Symptoms appear during adolescence or adulthood. People with this genetic disease in adults often have the following symptoms:

  • muscle weakness
  • speech disorder
  • unsteady gait
  • memory problems
  • Shake

The severity of symptoms and life expectancy can vary from person to person.

Diagnosed with Tay Sachs disease

Prenatal tests such as chorionic villus sampling (CVS) and amniocentesis can diagnose Tay Sachs disease. Genetic testing is usually done when one or both of a couple are carriers of the disease.

CVS; Performed during 10 to 12 weeks of pregnancy, it is a type of test that examines the baby’s chromosomes by taking a sample of cells from the placenta through the vagina or abdomen. amniocentesis; done between 15 and 20 weeks of pregnancy, it involves examining the mother’s abdomen by removing a sample of the fluid surrounding the fetus using a needle.

If your child is showing signs of Tay Sachs disease, the doctor may perform a physical exam and ask for a family health history. Enzyme analysis can be done with your child’s blood or tissue samples, and an eye exam may reveal a red spot on their macula (a small area near the center of the eye’s retina).

Tay Sachs disease treatment

There is no clear treatment method to cure this genetic disease. Current treatment is directed towards the specific symptoms that are evident in each individual. The treatment process may require the coordinated efforts of a team of specialists. It may be necessary to systematically and comprehensively plan an affected child’s treatment with pediatricians, neurologists, speech pathologists, specialists who evaluate and treat hearing problems (audiologists), eye specialists, and other healthcare professionals. Genetic counseling can be beneficial for affected individuals and their families. In such cases, psychosocial support is recommended for the whole family.

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Because of the potential for feeding difficulties, infants should be monitored for nutritional status and appropriate hydration (appropriate water and electrolyte levels in the body). Therefore, nutritional support and supplementation may be necessary for your baby, and sometimes a feeding tube may also be required. In addition to nutritional support; A feeding tube may be necessary to prevent food, liquid, or other foreign material from accidentally entering the lungs. (aspiration)

Anticonvulsants (antiepileptic drugs) can be used to treat seizures in some people with Tay Sachs disease, but may not be effective in all patients. Also, the type and frequency of seizures can vary from person to person, necessitating a change in medication type or dosage.

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