What is Tay-Sachs?
Tay-Sachs or Gangliosidosis is an inherited disorder that is extremely rare. It destroys nerve cells in the brain and spinal cord. The most common form of Tay-Sachs is usually first present in infancy and appears at the age of 3-6 months. People with Tay-Sachs usually only live until early childhood.
Where Does it Occur?
The gene affected by Tay-Sachs is the HEX-A, short for, "hexosaminidase A". (alpha polypeptide) It's normal function is to provide instructions fro making a part of an enzyme called beta-hexosaminidase. Tay-Sachs affects the HEX-A gene by preventing the enzyme from breaking down GM2 Ganglioside.
What Are the Symptoms of Tay-Sachs?
Children with Tay-Sachs show symptoms such as deafness, blindness, decreased muscle tone, increased startle response, paralysis or loss of muscle function, seizures, delayed mental and social development, and slow growth. People with Tay-Sachs also often have Cherry-red spot, which is located in the macula of the eye and can be located with careful examination. The macula's transparency is the cause of the visibility of the cherry red spot.
Complications of Tay-Sachs include:
- Inability to roll over
- Inability to sit
- Inability to crawl
How is it Inherited?
Tay-Sachs is inherited in an autosomal recessive pattern. (Both copies of the gene in each cell have mutations) The parent of the child with Tay-Sachs each carry one copy of the mutated gene, but do not normally show signs of the disease.
Carrier or Disease?
The definition of a carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease (In this case, Tay-Sachs) and may or may not exhibit disease symptoms. Before having children, make sure to visit a geneticist to see if you are a carrier.
How Can I Treat Tay-Sachs?
Some symptom-controlling treatments such as providing anticonvulsants to control seizures and proper nutrition/hydration also benefits the affected child. The search is ongoing for a cure.
How Can I Help Children With Tay-Sachs?
Visit the website for NTSAD, (The National Tay-Sachs and Allied Diseases Association) with the link below: