What is the definition of Tay-Sachs Disease?

Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families.

What are the alternative names for Tay-Sachs Disease?

GM2 gangliosidosis - Tay-Sachs; Lysosomal storage disease - Tay-Sachs disease

What are the causes for Tay-Sachs Disease?

Tay-Sachs disease occurs when the body lacks hexosaminidase A. This is a protein that helps break down a group of chemicals found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, often nerve cells in the brain.

Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene, one from each parent, in order to become sick. If only one parent passes the defective gene to the child, the child is called a carrier. They will not be sick, but may pass the disease to their own children.

Anyone can be a carrier of Tay-Sachs. But, the disease is most common among people with Ashkenazi Jewish ancestry. One in every 27 members of the population carries the Tay-Sachs gene.

Tay-Sachs is divided into infantile, juvenile, and adult forms, depending on the symptoms and when they first appear. Most people with Tay-Sachs have the infantile form. In this form, the nerve damage usually begins while the baby is still in the womb. Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.

Late-onset Tay-Sachs disease, which affects adults, is very rare.

What are the symptoms for Tay-Sachs Disease?

Symptoms may include any of the following:

  • Deafness
  • Decreased eye contact, blindness
  • Decreased muscle tone (loss of muscle strength), loss of motor skills, paralysis
  • Slow growth and delayed mental and social skills
  • Dementia (loss of brain function)
  • Increased startle reaction
  • Irritability
  • Listlessness
  • Seizures

What are the current treatments for Tay-Sachs Disease?

There is no treatment for Tay-Sachs disease itself, only ways to make the person more comfortable.

What are the support groups for Tay-Sachs Disease?

The stress of illness may be eased by joining support groups whose members share common experiences and problems. The following groups can provide more information on Tay-Sachs disease:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/tay-sachs-disease
  • National Tay-Sachs and Allied Diseases Association -- www.ntsad.org
  • NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/tay-sachs-disease

What is the outlook (prognosis) for Tay-Sachs Disease?

Children with this disease have symptoms that get worse over time. They usually die by age 4 or 5.

What are the possible complications for Tay-Sachs Disease?

Symptoms appear during the first 3 to 10 months of life and progress to spasticity, seizures, and loss of all voluntary movements.

When should I contact a medical professional for Tay-Sachs Disease?

Go to the emergency room or call the local emergency number (such as 911) if:

  • Your child has a seizure of unknown cause
  • The seizure is different from previous seizures
  • The child has difficulty breathing
  • The seizure lasts longer than 2 to 3 minutes

Call for an appointment with your provider if your child has other noticeable behavioral changes.

How do I prevent Tay-Sachs Disease?

There is no known way to prevent this disorder. Genetic testing can detect if you are a carrier of the gene for this disorder. If you or your partner is from an at-risk population, you may wish to seek genetic counseling before starting a family.

If you are already pregnant, testing the amniotic fluid can diagnose Tay-Sachs disease in the womb.

Central nervous system and peripheral nervous system
Autosomal recessive

REFERENCES

Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.

Nussbaum RL, McInnes RR, Willard HF. The molecular, biochemical, and cellular basis of genetic disease. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 12.

Wapner RJ, Dugoff L. Prenatal diagnosis of congenital disorders. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 32.

  • Condition: Late Onset GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: mHealth and Wearable Technology
  • Number of Patients: 0
  • Published —
This study evaluated the feasibility of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).
Clinical Trial
  • Status: Recruiting
  • Participants: 15
  • Start Date: April 2016
A Natural History of Late Onset Tay-Sachs Disease: MGH Site
Clinical Trial
  • Status: Recruiting
  • Participants: 52
  • Start Date: December 2010
A Natural History Study of the Gangliosidoses