Tay-Sachs Disease : Symptoms and Causes

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.

Source

Symptoms
Symptoms of Tay-Sach’s disease include

• deafness,
• blindness,
• loss of muscle strength,
• delayed mental development,
• dementia,
• irritability,

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.