Tay-Sachs Symptoms

tay-sachs symptoms

Tay-Sachs syndrome symptoms

The symptoms of Tay-Sachs are a set of symptoms unique to this individual genetic syndrome. 

Tay-Sachs is a genetic syndrome, also known as a rare disease. It is usually identified during infancy, and in many cases, it is fatal, with a life expectancy of no more than a few years following birth. 

Rare forms of the syndrome have symptoms that start later in childhood, this is known as juvenile Tay-Sachs disease, or sometimes early adulthood/late onset Tay-Sachs. These rarer forms of the disease do not always have a short life expectancy.

Tay-Sachs syndrome causes

Tay-Sachs is caused by a mutation in the HEXA gene, located on chromosome 15. This mutation leads to a lack of an enzyme that is responsible for breaking down fatty substances. Known as gangliosides, these fatty substances then build up, within a child’s brain, to toxic levels. This then affects the nerve cells and their ability to work. This is what then triggers the symptoms of this rare disease. 

Tay-Sachs is inherited in a type of genetic inheritance pattern known as an autosomal recessive pattern. This means for a child to develop this rare disease, they must receive two copies of the gene mutation, from both parents. They must have two parents who are carriers of the syndrome, but who display no symptoms themselves. 

The risks for Tay-Sachs for the child with two parents who are carriers are:

  • 25% chance of not inheriting the gene mutations, and being neither affected by the syndrome nor a carrier of it
  • 50% chance the child will inherit one copy of the gene mutation from one of their parents, meaning they won’t develop the condition, but they will be a carrier and will need to consider this when having their children in the future
  • 25% chance the child will be born with Tay-Sachs, having inherited both copies of the gene mutation from both parents

Tay-Sachs syndrome symptoms

Tay-Sachs symptoms begin in infancy. This can be anywhere between 3-6 months old. The syndrome is progressive, meaning symptoms worsen with time, and with Tay-Sachs, they progress quickly. It is one of the most severe genetic disorders in children

These symptoms include –

  • Seizures and fits
  • Muscle stiffness
  • Issues and difficulties with swallowing
  • Floppiness and weakness which gets worse over time and ends with paralysis
  • A loss of vision or hearing
  • Developmental delay, and losing skills already learned – Tay-Sachs is a regressive disease, and regressive or lost developmental skills are one of the major symptoms of it
  • Being overly startled by both noises and movement

Symptoms of Tay-Sachs are severe, and most affected infants do not survive past the age of 5. The most common cause of death is pneumonia, which is an infection of the lung. 

Tay-Sachs and genetic counseling

Genetic counseling for Tay-Sachs is critically important. Those of European Ashkenazi descent or ancestry are at higher risk for being carriers of the syndrome, and if two parents are of this ancestry, genetic carrier screening is essential before starting a family. 

Genetic counseling for Tay-Sachs is particularly sensitive to the severe symptoms of this syndrome, and its shortened life expectancy. Two parents who are discovered to be carriers will need to meet with a genetic counselor, to understand fully what this means for the health of their future children, and what their options for family planning are. A genetic counselor can help families understand their options, including the possibility of egg or sperm donation, to reduce their risk of passing on Tay-Sachs.

Parents who receive a diagnosis of Tay-Sachs in their child will require a great deal of emotional, and medical support, in terms of understanding and coping with their child’s prognosis. Genetic counselors are trained to provide this support.

Related articles

Parents' Guide to Genetic Disorders
Is Bipolar Disorder Genetic

Can My Child Inherit Bipolar Disorder? What Parents Need to Know About the Genetic Risk

As a parent, it’s natural to worry about your child’s mental health, especially if conditions like bipolar disorder run in your family. Bipolar disorder, a condition marked by intense mood swings, affects millions of people worldwide. But is it genetic? And if so, what does that mean for your child?  Understanding the role genetics play […]

Read more
Parents' Guide to Genetic Disorders
Fabry Disease A Rare Genetic Disorder 

Fabry Disease: A Rare Genetic Disorder 

As parents, our children’s health is always a top priority. When faced with a rare condition like Fabry disease, it can be distressing and confusing. We aim to provide clear and helpful information about Fabry disease, its causes, symptoms, diagnosis, and treatment options.  It is a rare genetic disorder that affects the body’s ability to […]

Read more
Parents' Guide to Genetic Disorders
Common Genetic Eye Disorders Causes, Symptoms, and Treatment

Common Genetic Eye Disorders: Causes, Symptoms, and Treatment

Genetic eye disorders are conditions caused by inherited mutations in genes that affect vision and eye health. These disorders can range from mild impairments to severe vision loss, and they may appear at birth or develop over time. Understanding the types of genetic eye disorders that can affect children is essential for parents so they […]

Read more