Tay–Sachs Disease

Tay-sachs disease

Tay-Sachs disease is a fatal congenital disease that leads to progressive destruction of the nerve system.

Definition and Facts

Tay-Sachs disease (TSD) is a fatal genetic disorder, the majority of frequently happening in kids, that leads to progressive destruction of the nervous system. Tay-Sachs is brought on by the lack of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside builds up unusually in cells, specifically in the nerve cells of the brain. This ongoing accumulation triggers progressive damage to the cells.

Tay-Sachs disease is an uncommon inherited condition that mainly affects babies and young kids. It stops the nerves working properly and is usually deadly.

In kids, the damaging process begins in the fetus early in pregnancy. However, a baby with Tay-Sachs disease appears normal until about six months of age when its development slows. By about two years of age, the majority of children experience recurrent seizures and decreasing psychological function. The infant slowly regresses and is ultimately not able to crawl, turn over, sit or reach out. Eventually, the kid ends up being blind, cognitively impaired, paralyzed, and non-responsive. By the time a kid with Tay-Sachs is three or four years of ages, the nervous system is so severely impacted that death results typically by age five.

A much rarer type of Tay-Sachs, Late-Onset Tay-Sachs disease, affects adults and triggers neurological and intellectual disability. Only just recently identified, the disease has not been thoroughly described. When it comes to the childhood form of Tay-Sachs, there is no cure. Treatment involves handling the symptoms of the disease.

Defect in Hex-A Gene Causes Tay-Sachs:

Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for the production of the enzyme Hex-A. All of us have two copies of this gene. If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the irregular build-up of the GM2 ganglioside lipid. Carriers of Tay-Sachs – people who have one copy of the inactive gene along with one copy of the active gene – are healthy. They do not have Tay-Sachs disease; however, they may hand down the faulty gene to their children.

Carriers have a 50 percent chance of handing down the defective gene to their children. A child who inherits one non-active gene is a Tay-Sachs provider like the moms and dad. If both parents are providers and their kid acquires the malfunctioning Hex-A gene from each of them, the kid will have Tay-Sachs disease. When both parents are carriers of the faulty Tay-Sachs gene, each kid has a 25 percent chance of having Tay-Sachs disease and a 50 percent chance of being a carrier.

Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease:

While anyone can be a provider of Tay-Sachs, the occurrence of the disease is substantially higher among individuals of eastern European (Ashkenazi) Jewish descent. Roughly one in every 27 Jews in the United States is a carrier of the Tay-Sachs disease gene. Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana also have a higher incidence of Tay-Sachs. For the general population, about one in 250 individuals are providers.

There is no treatment or efficient therapy for Tay-Sachs disease.

Nevertheless, scientists are pursuing several techniques for discovering a treatment. Researchers are exploring enzyme replacement treatment to offer the Hex-A that is lacking in babies with Tay-Sachs. Bone marrow transplant has also been attempted, however to date has not achieved success in reversing or slowing damage to the central nervous system in babies with Tay-Sachs. Another avenue of research is gene treatment in which researchers transfer a normal gene into cells to change an irregular gene. This technique holds a excellent guarantee for future Tay-Sachs patients.

Tay-Sachs Disease Symptoms

In the most typical form, a baby typically starts showing symptoms by about six months of age. Symptoms and signs of Tay-Sachs disease can consist of the following:

  • Loss of motor abilities, including turning over, crawling and staying up
  • Overstated reactions when the baby hears loud noises
  • Seizures
  • Vision and hearing loss
  • “Cherry-red” spots in the eyes
  • Muscle weak point
  • Motion problems

When to see a medical professional

If your kid has any of the signs or symptoms noted above, set up a consultation with your child’s doctor.

Tay-Sachs Disease Causes

As we wrote above, Tay-Sachs disease is a generic disease that is passed from parents to their children. It takes place when a child inherits the gene from both parents.

Diagnosis for Tay-Sachs Disease

An easy blood test can determine Tay-Sachs carriers. Blood samples can be evaluated by either enzyme assay or DNA research studies. The enzyme assay is a biochemical test that determines the level of Hex-A in a person’s blood. Providers have less Hex-A in their body fluid and cells than non-carriers.

DNA-based provider testing looks for particular mutations or changes in the gene that codes for Hex-A. Since 1985, when the Hex-A gene was isolated, more than 50 various mutations in this gene have been recognized. Nevertheless, some anomalies are not yet understood. The present tests identify about 95 percent of providers of Ashkenazi Jewish background and about 60 percent of carriers in the primary population.

If both parents are carriers, they might wish to speak with a hereditary counselor for aid in choosing whether to develop or whether to have a fetus checked for Tay-Sachs.

Substantial provider testing of Ashkenazi Jews has considerably reduced the variety of Tay-Sachs kids in this population group. Today most cases of Tay-Sachs disease take place in populations thought not to be at high risk.

Prenatal testing for Tay-Sachs can be performed around the 11th week of pregnancy using chorionic villi sampling (CVS). This includes getting rid of a tiny piece of the placenta. Alternatively, the fetus can be tested with amniocentesis around the 16th week of pregnancy. In this treatment, a needle is utilized to take off and test a sample of the fluid surrounding the baby.

Treatment for Tay-Sachs

There is no cure for Tay-Sachs disease. Treatment typically consists of keeping the child comfy. This is called “palliative care.” Palliative care may include medication for pain, anti-epileptics to manage seizures, physical treatment, feeding tubes, and respiratory care to minimize mucus buildup in the lungs.

Emotional assistance for the family is also essential. Seeking out support groups can help you cope. Taking care of a sick kid is emotionally challenging, and talking with other families combating the same disease can be soothing.

There is no remedy for Tay-Sachs disease; however, some treatments can assist in handling symptoms. The goal of therapy is assistance and convenience. Effective treatments include:


To lower your kid’s symptoms, a variety of prescription medications are readily available, consisting of anti-seizure medications.
Respiratory care. Kids who have Tay-Sachs disease are at danger of lung infections that trigger breathing issues and frequently build up mucus in their lungs.

Your child might need the mucus utilizing chest physiotherapy (CPT) to assist eliminate mucus from the lungs.

Feeding tubes

Your child might have a problem swallowing, or develop respiratory issues by breathing in food or liquid into the lungs while consuming.

To prevent those problems, your medical professional may suggest an assistive feeding device such as a gastrostomy tube, which is placed through your child’s nose and goes to your child’s stomach. Or, a doctor trained in stomach surgery may surgically place an esophagogastrostomy tube.

Physical treatment

As the disease advances, your child might take advantage of physical therapy to help keep joints versatile and preserve as much ability to move (series of motion) as possible.

Physical therapy can postpone joint stiffness and lower or delay the loss of function and pain that can arise from shortened muscles.

Potential Future Treatments

Gene therapy or enzyme replacement therapy research may ultimately cause a remedy or treatment to slow the development of Tay-Sachs disease.

Coping and Support for Children with Tay-Sachs disease

Ask your child’s medical professional to recommend resources and details to help you and your family cope with your kid’s needs. Try to find a local support system to link you with other families who are sharing similar challenges.

References / About Reyus Mammadli (article's author)

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