What Is The Cause Of Tay-Sachs Disease? Symptoms & Management

Tay-Sachs disease is a rarely seen genetic disorder which is passed from the parent to the child. A child who inherits the anomalous gene from both the parents develops Tay-Sachs disease.

Tay-Sachs disease develops when an enzyme which breaks down fatty substances is not present at all. The fatty substances then tend to accumulate in the body to highly toxic levels, especially in the brain and affect the nerve cells.

With a progression of the disease, body functions are lost, consequently leading to deafness, blindness, paralysis and death.

Tay-Sachs is frequently seen amongst – those whose families come from Eastern and Central European Jewish society; the Old Order Amish society in Pennsylvania; French Canadian societies in Quebec and the Cajun commune of Louisiana.

In case of a family history of the disorder or if you belong to a high risk group and plan conceive, you must get genetic testing and genetic counseling done; it is very crucial.

Signs And Symptoms Of Tay-Sachs Disease

The infants have nerve impairment starting in utero and the clinical picture becomes apparent from age 3 to 6 months.

The progression is fairly rapid, and the child usually dies by 5 years.

Symptoms of Tay-Sach’s disease include:

  • Progressive blindness
  • Deafness
  • Reduced muscular strength
  • Increased startle response
  • Seizures
  • Paralysis
  • Stiffness of the muscles
  • Slow growth
  • Slow mental and social development
  • Red spot on the macula in the eye

How Is Tay-Sachs Disease Diagnosed?

  • Prenatal tests, such as the CVS – chorionic villus sampling and amniocentesis help diagnose Tay-Sachs disease. When one or both the partners are carriers of the disease, genetic testing must be done.
  • Chorionic villus sampling is carried out at 12 weeks of pregnancy. Amniocentesis is carried out at 15 of pregnancy.
  • In case a child shows symptoms of Tay-Sachs, the physician will conduct a physical exam and gather family history. Enzyme analysis is conducted on the child’s blood or tissue samples; eye examination reveals a red spot on the macula.

Management Of Tay Sachs Disease

Tay-Sachs disease is a genetically transmitted disease; thus there is no way of preventing it with the exception of screening. You can screen for carriers by getting genetic testing done. It is vital that you confer with a genetic counselor in case you are thinking about conceiving and you or your partner believe you may be carriers for the condition.

There is no cure for Tay-Sachs; the chief aim of treatment is support and comfort for the child.

  • Treatment is given deal with the symptoms better – muscle pain, stiffness, seizures and breathing trouble.
  • Respiratory care: Medicines to handles lung infections which cause breathing trouble are necessary.
  • Feeding tubes: The child may inhale food or liquid in to the lungs while eating; hence, your doctor may advise a feeding device such as a nasogastric tube or surgery to introduce an esophago-gastrostomy tube to manage feeding problems.
  • Physical therapy: Physical therapy keeps the joints flexible and supple and maintains the range of movement as well. It will hold-up joint stiffness and reduce the loss of function and pain significantly.
  • Family support: You most definitely need help, to assist you and your family cope with your child’s needs.