Symptoms of Tay-Sachs disease vary based on your child’s age. The disease progresses (gets worse) as your child grows. The most common sign of Tay-Sachs disease among children is missing developmental milestones for their age or losing skills they previously learned and mastered VSports注册入口.
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Early symptoms (around 6 months) include:
As the disease progresses (before 1 year of age), symptoms include:
Around 2 years old, the condition starts to take over completely. Your child may be in an unresponsive state VSports在线直播. This means they don’t have much brain function. The age of death is usually between 2 and 4 years. Pneumonia is often the cause of death in infantile Tay-Sachs disease.
Children diagnosed with juvenile Tay-Sachs disease may experience the following symptoms after age 5:
The condition usually progresses into the teenage years and leads to early death during this time.
Adults diagnosed with late-onset Tay-Sachs disease may experience the following symptoms:
A genetic change (mutation) of the HEXA gene causes Tay-Sachs disease.
The HEXA gene gives your cells instructions to make an enzyme (hexosaminidase A) that breaks down toxic substances in your body. If this enzyme isn’t available to do its job, a fatty substance collects in your cells. This damages and, ultimately, destroys cells within your brain and spinal cord, leading to symptoms of Tay-Sachs disease.
Tay-Sachs disease is autosomal recessive. This means that two copies of the disease-causing genetic variant (change or mutation) to the HEXA gene need to be present for a Tay-Sachs disease diagnosis.
Each person has two copies of the HEXA gene. They get one from each of their biological parents.
Tay-Sachs disease happens when both parents have a mutated HEXA gene and pass it on to their children. As a result, neither copy of the baby’s HEXA gene works. Healthcare providers may refer to this condition as hexosaminidase A deficiency or hex A deficiency.
A carrier is a person who has one working copy of the HEXA gene and one copy with a disease-causing variant. All humans inherit two copies of a gene, one from each biological parent to make a pair (one from the egg and one from the sperm). Carriers don’t have the condition or show symptoms, as their bodies can rely on the one working gene.
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If two people who carry the genetic variant have a child, the child’s risk of developing the condition is as follows:
A child is more at risk of developing Tay-Sachs disease if both of their biological parents carry the genetic variant. Anyone can be a carrier of the genetic variant. The condition is more common among people of French-Canadian, Eastern European or Ashkenazi Jewish descent, where approximately 1 in 30 people carry the genetic variant.
Tay-Sachs disease causes early death among children. As the condition progresses, a child’s life expectancy decreases.
A healthcare provider will diagnose Tay-Sachs disease after a blood test. To perform this test, a healthcare provider will remove a small sample of blood from your child’s body, either their heel or a vein in their arm. Their provider will measure the level of the enzyme hexosaminidase A in the blood sample. In a child with classic Tay-Sachs disease, this protein is mostly or completely missing. People diagnosed with other forms of the disease have low levels of this enzyme.
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A provider may also do an eye exam to see if the child has the classic cherry-red spot in their eye.
Two specialized tests can diagnose Tay-Sachs disease during pregnancy:
Both tests look for the enzyme hexosaminidase A. If there’s a below-average amount of this enzyme in the testing samples, your healthcare provider will diagnose the fetus with Tay-Sachs disease. In addition, they may perform a genetic test on these samples to identify a mutation in the HEXA gene, which causes the condition.
Treatment for Tay-Sachs disease is supportive of your child’s symptoms. For example, your healthcare provider may prescribe medication to manage seizures. Other treatment measures include providing proper nutrition and hydration. Your child’s provider will make them as comfortable as possible.
In addition, your healthcare provider can help you and your family prepare for the loss of your child. They may recommend visiting a mental health professional or participating in a bereavement support group.
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Treatment is available to help adults diagnosed with Tay-Sachs disease manage their symptoms, including:
No, there isn’t a cure available for Tay-Sachs disease.
Tay-Sachs disease is fatal for children. Your child’s care team will talk to you about end-of-life support and care. They’ll also offer guidance to help parents, caregivers and families manage the loss of a child. Many families find comfort in speaking with a mental health professional or participating in a bereavement support group.
Tay-Sachs disease is fatal because of damage and death of cells within your child’s brain and spinal cord. Cells have important jobs to keep our bodies working. With Tay-Sachs disease, a genetic variant affects the instructions your cells receive so they’re unable to do their jobs. This ultimately damages and destroys cells that are vital for your child’s survival.
The cause of death for many children with Tay-Sachs disease is a lung infection (pneumonia). As your child’s cells aren’t working as expected, their immune system can’t fight infections to keep your child healthy.
Children with infantile Tay-Sachs often pass away before the age of 5. Older children and teenagers diagnosed with juvenile Tay-Sachs disease have a life expectancy into early adulthood. Late-onset Tay-Sachs disease doesn’t directly affect an adult’s life expectancy.
No. Children can’t recover from Tay-Sachs disease. Treatment is available to keep your child comfortable and delay the progression of the condition.
There’s no known way to prevent Tay-Sachs disease.
To learn more about your risk of having a child with a genetic condition like Tay-Sachs disease, talk to your healthcare provider about preconception counseling and genetic testing before getting pregnant. Your healthcare provider can help you plan for a future pregnancy.
The best way to care for your child is to manage their symptoms and keep them comfortable. Your care team will provide care and guidance on the following:
Talk to your provider if:
If you’re at high risk for having a baby with Tay-Sachs disease, ask your provider the following:
The symptoms and progression of Tay-Sachs disease are like those of Sandhoff disease. This is an inherited condition. Tay-Sachs disease involves the enzyme hexosaminidase A. Sandhoff disease involves hexosaminidase A and a second enzyme, hexosaminidase B.
Tay-Sachs disease is a difficult and devastating diagnosis to receive. The excitement and joy you feel as a new parent is cut short and it all seems unfair. During this time, surround yourself with support, from your child’s care team to friends and family. Many people find comfort in speaking with a mental health professional or joining a grief support group. Your child’s healthcare providers will make sure they’re comfortable and cared for as the disease progresses.
Genetic testing and counseling can help parents-to-be. The best time to do genetic counseling and testing is before pregnancy. That way, you’ll have all the information you need to make the best decisions for you and your family.
If you have a neurological condition, you want expert advice. At Cleveland Clinic, we’ll work to create a treatment plan that’s right for you.
Last reviewed on 10/01/2023.
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