Tay-Sachs Syndrome – What it is, Symptoms and Treatments that many do not yet know. In addition, Tay-Sachs Syndrome is a rare, autosomal recessive genetic disorder. In its most common variant (Tay-Sachs infant), it causes a progressive deterioration of nerve cells and mental and physical abilities, which begins in the first months of life and usually results in death around the age of four.
The name of the disease, recognized in the 1880s, is a tribute to its discoverers, British ophthalmologist Waren Tay and American neurologist Bernard Sachs .
Causes of Tay-Sachs Syndrome:
The Tay-Sachs syndrome is caused by a genetic defect in a single gene with a defective copy of the gene inherited from each parent.
The Tay-Sachs syndrome occurs when the dangerous amounts of strain accumulates in nerve cells of the brain, leading to premature death of these cells.
Tay-Sachs Syndrome Symptoms:
Early signs of the disease may include:
A near visible center of the red dot of the retina;
Delayed learning revelation (eg sitting and crawling)
The progression of the disease tends to occur rapidly, with signs and symptoms rapidly evolving to become more serious. Other symptoms may include:
Lack of interest in the environment;
Susceptible to infection;
Loss of sight ;
Tay-Sachs Syndrome Diagnosis :
Tay-Sachs syndrome is diagnosed by means of a laboratory test in which blood hexosaminadase A levels are determined.
Patients with the disease have a significant reduction in the amount and activity of the enzyme. Clinical signs and family history greatly contribute to the diagnosis.
The Tay-Sachs syndrome can also be detected during pregnancy when there is the certainty that the parents are carriers. For this, the biopsy of the chorionic villi (structures present in the placenta) is performed, which allows the identification of mutant genes of the fetus. Many couples, discovering that the fetus has the disease, choose to terminate the pregnancy.
Tay-Sachs Syndrome Treatment:
There is no cure for Tay-Sachs Syndrome , but some treatments can help control the symptoms, the goal of treatment is the support and comfort of the patient. Supportive treatments consist of the following:
Medications: There are several prescription drugs that can reduce your child’s symptoms, such as anticonvulsant medications.
Respiratory Care: Children with Tay-Sachs Syndrome are at risk for lung infections that cause respiratory problems and often mucus buildup in the lungs.
Feeding Probe: Your child may have difficulty swallowing or manifesting breathing problems by inhaling food or fluid in the lungs while eating.
To avoid these problems, your doctor may recommend a feeding aid, such as a gastrostomy tube, inserted through your child’s nose and stomach . Or, a doctor trained in stomach surgery may insert an esophagogastrotomy tube through surgery.
Physical Therapy: As the disease progresses, your child can benefit from physical therapy to help maintain joint flexibility and preserve the ability to move (range of motion) as much as possible.
Physical therapy can slow joint stiffness and reduce or delay the loss of function and pain that shortened muscles can cause.