Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal.
It used to be most common in people of Ashkenazi Jewish descent (most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.
Symptoms of Tay-Sachs disease usually start when a child is 3 to 6 months old.
The main symptoms include:
The condition is usually fatal by around 3 to 5 years of age, often due to complications of a lung infection (pneumonia).
Rarer types of Tay-Sachs disease start later in childhood (juvenile Tay-Sachs disease) or early adulthood (late-onset Tay-Sachs disease). The late-onset type doesn't always shorten life expectancy.
Tay-Sachs disease is caused by a problem in a child's genes that means their nerves stop working properly.
A child can only have it if both parents have this faulty gene. The parents themselves don't usually have any symptoms – this is known as being a "carrier".
If 2 people who are carriers have a child, there's a:
Speak to your GP if:
If you're pregnant or planning a pregnancy, you may be referred to a genetic counsellor to discuss having a test to see if you're at risk of having a child with Tay-Sachs disease and talk about your options.
If your child has possible symptoms of Tay-Sachs disease, a blood test can show if they have it.
There's currently no cure for Tay-Sachs disease. The aim of treatment is to make living with it as comfortable as possible.
You'll see a team of specialists, who will help come up with a treatment plan for your child.
Treatments may include:
Your care team will talk to you about end of life issues, such as where you'd like your child to receive care and if you'd like them to be resuscitated if their lungs stop working.
You can get more information and support from:
If you're interested in finding out more about research into treatments for Tay-Sachs disease, ask your care team about any research you might be able to get involved in.
If your child has Tay-Sachs disease, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).
This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.