In the most common form of Tay-Sachs disease,classic infantile Tay-Sachs disease, a babywill develop normally until they're around three to six months old.
One of the first noticeablesigns ofthe conditionis the appearance of ared dot at the back of their eyes. You may also notice that their vision seems poor, or that they're excessively startled by noises and movement.
It's likely that your baby will be much slower in reaching developmental milestones, such as learning to crawl.
Additional symptoms usually develop after about eight months of age and quickly become more severe. They include:
Children with Tay-Sachs disease become increasingly vulnerable to infection, particularly lung infections. Many children die from a complication of an infection such as pneumonia .
Most childrenwith infantile onset Tay-Sachs disease diebefore they're four years old, because ofcomplications from repeated infections.
There are two much rarer forms of Tay-Sachs disease.
In the juvenile form, the symptoms don't usually begin until a child is aged 2 to 10 years old.
Initially, problems develop with speech and motor skills, such as balance, walking and holding objects. Some children may also develop problems with vision.
As the condition progresses, the child will have repeated fits and experience dementia .
Most children with the juvenile form of Tay-Sachs disease eventually enter a vegetative state , where they're awake, but showing no signs of awareness. This usually happens between the ages of 10 and 15. The most common cause of death is a complication of an infection.
The symptoms of late-onset Tay-Sachs disease develop later in life, usually during the teenage years or early adulthood.
Aroundone in threepeople with late-onset Tay-Sachs disease also develop mental healthconditions, such as bipolar disorder or psychosis.They may see or hear things that aren't there ( hallucinations ) or believe things that aren't true (delusions).
Unlike other forms of the condition, late-onset Tay-Sachs disease doesn't alwaysshorten life expectancy.
Tay-Sachs disease is a very rare and usually fatal genetic disorder that causes progressive damage to the nervous system.
In the most common form of Tay-Sachs disease, a baby will develop normally until they are around three to six months old.
Tay-Sachs disease is caused by a genetic mutation called the HEXA mutation.
Tests can be carried out to check if you are a carrier of Tay-Sachs disease or to diagnose the condition after birth.
There is currently no cure for Tay-Sachs disease, so the aim of treatment is to make living with the condition as comfortable as possible.