Tay-Sachs Disease : Symptoms and Causes

1 What is Tay-Sachs Disease?

Tay-Sach’s disease is a rare genetic disorder which results due to absence of an enzyme in the body that breaks down fatty substances.

The fatty substances accumulate in the body and affect child’s brain. As the disease develops the body loses its function gradually.

Gene therapy or enzyme replacement therapy are the only treatment option which may in increase the life the child.

It mostly occurs among people whose ancestors belong to

  • Eastern and Central French Canadian Jewish communities,
  • certain French Canadian communities in Quebec,
  • Old Order Amish community in Pennsylvania
  • and Cajun community of Louisiana.      

2 Symptoms

Symptoms of Tay-Sach’s disease include

  • deafness,
  • blindness,
  • loss of muscle strength,
  • delayed mental development,
  • dementia,
  • irritability,
  • loss of motor functions,
  • paralysis,
  • seizures
  • and even death.    

3 Causes

Tay-Sachs disease a genetic disorder caused by mutation (alteration in genome) on chromosome no. 15 (a human organism consists of 23 pairs of chromosome).

It occurs due to absence of an enzyme hexosaminidase A, that breaks down fatty acids.

Without this enzyme, toxic products like gangliosides build up in the cells and affect the CNS resulting the symptoms.

In order to inherit the disease from the parents, the child must receive two copies of defective gene (one from each parent).

4 Making a Diagnosis

Diagnosis of Tay-Sachs disease requires special methods along with classical ways.

The doctors will do a thorough physical examination in which he might see a cherry-red spot in the back. It is the sign of the disease.

The doctor will also ask about the history of the illness and about hereditary family disorders. Special genetic tests are done to confirm the diagnosis.

5 Treatment

There is no cure for Tay-Sach’s disease therefore the treatment goal is to reduce the symptoms and increase the life of the child.

The treatment includes:

  • Medications,
  • respiratory care in those cases when children are at high risk of lung infections,
  • feeding tubes may be used to prevent choking,
  • physical therapy can help to keep joints flexible and maintain the range of movements
  • and good family support is needed to maintain proper mental condition.

6 Prevention

As Tay-Sach’s disease is a genetic disorder, there is no way to prevent it.

Genetic testing and genetic counselling can detect the gene responsible for this disorder.

If a person belongs to risk group, it is recommended to undergo testing before starting a family.

Testing amniotic fluid can diagnose Tay-Sach’s disease in the womb.  

7 Lifestyle and Coping

Lifestyle modifications are necessary in order to manage the symptoms of Tay-Sachs disease.

Stress of illness may be eased by joining support groups whose members share common experiences and problems.

8 Risks and Complications

Being a member of a family in which Tay-Sach’s disease has been diagnosed is a major risk factor.

Tay-Sach’s disease has been diagnosed more in some specific communities.

Following are the possible complications of Tay-Sach’s disease:

  • Spasticity,
  • seizures,
  • loss of voluntary movements
  • and death.

9 Related Clinical Trials