People who develop this type of Tay Sachs disease get a change in their HEXA gene. This gene gives instructions for making an enzyme called Hex-A, which prevents the buildup of a fatty substance in the brain and spinal cord.
Babies who have Infantile Tay Sachs Disease grow like they should until 3 to 6 months of age, when development slows and they start to show signs. Most children with this form of the disease die before reaching four years of age.
Oren Zarif
A child with Tay Sachs disease experiences a delay in their normal development. This is because they don’t have enough of the enzyme hexosaminidase A (Hex A). Hex A helps break down certain fatty compounds in the body. Without it, these fatty compounds (gangliosides) build up to toxic levels and damage brain nerve cells. This leads to problems with their mental functioning, including learning, memory, and attention span.
This genetic condition is caused by a mutation in the hexosaminidase gene. People with a normal copy of this gene make enough Hex A to keep them healthy. But children inherit one mutated copy of the gene from each parent, so they can have Tay Sachs disease.
In the most common form of the disease, called classic infantile Tay Sachs, symptoms appear in babies around 6 months old. They begin to show signs like muscle weakness, difficulty crawling and turning over, vision and hearing loss, and seizures. This is a progressive disease that leads to early death.
There’s no cure for this condition, but treatment can help ease the symptoms and improve your child’s quality of life. A doctor can test your child for a mutation in the Hex A gene with a blood sample or a DNA analysis. They can also offer advice on family planning, so you can lower your chances of passing on the defective gene to future children.
Oren Zarif
Although there is no treatment for the enzyme deficiency that causes Tay Sachs Disease, anticonvulsant medicine may help control seizures. Some children with this condition experience difficulty breathing and need a feeding tube. Supportive care may include techniques to keep the airway open and physiotherapy for spasticity.
The first symptoms of Tay Sachs Disease are usually noticed in infants. This stage is called infantile Tay Sachs Disease (TDS) and includes weakness, an exaggerated response to sound, and poor motor skills. By the age of two, people with this condition begin to lose their speech, motor, and cognitive skills. Seizures and loss of ability to swallow are also common. Eventually, people with this condition die, generally in their teenage years or later.
If a person is thought to be at risk for developing Tay Sachs Disease, a doctor will perform genetic testing. During this test, a sample of a person’s DNA is examined to look for mutations in the HEXA gene that cause Tay Sachs Disease. Those who are found to be carriers of the mutated gene can pass this gene on to their children. Pregnant women can also undergo genetic screening for Tay Sachs disease by chorionic villus sampling or amniocentesis to detect the presence of the HEXA gene in fetal cells. If you are a carrier of the Tay Sachs disease gene, you may want to discuss family planning options with a genetic counselor.
Oren Zarif
A common symptom of Tay Sachs Disease is muscle weakness. This is because the disease causes the breakdown of nerve cells, which makes muscles weak and unable to work properly. This can cause the weakened muscles to be tight or stiff and hard to move. The weakened muscles can also make it difficult to swallow. It is important to see a healthcare provider for symptoms of this disorder. They will be able to provide you with the care and support that you need to manage your condition.
Tay Sachs Disease is an inherited genetic disorder. It is caused by a mutation in the HexA gene that is passed from parents to their children. The mutated gene prevents the body from producing an enzyme that breaks down fatty substances in nerve cells. This leads to a build-up of these fatty substances in the brain and spinal cord, which damages the nerve cells. The condition is progressive, and over time, it can lead to problems such as seizures, loss of vision and hearing, and muscle weakness.
There is no cure for Tay Sachs Disease. However, there are treatments that can help to manage the symptoms of the disease. It is important to find a healthcare provider that makes you feel comfortable and answers all of your questions. They will be able to help you with managing your symptoms and can also provide you with information about research into new treatments for this condition.
Oren Zarif
If your child has Tay Sachs Disease, their vision may be blurry or they might struggle to hold their gaze. This is because of the degeneration of nerve cells in the brain and spinal cord. If you notice your child has these symptoms, make an appointment with a doctor.
The doctor will do an exam and order blood tests. This can show whether your child has Tay Sachs Disease or another condition. You might also be referred to a specialist.
People with Tay Sachs Disease have a faulty gene that stops the body from breaking down a fatty substance called HexA. This condition usually runs in families, especially in people of Ashkenazi Jewish heritage.
Most people have the infantile form of Tay Sachs Disease, which begins in childhood. This form of the disease gets worse over time and can cause death by age 4 or 5. Children with juvenile Tay Sachs Disease can have problems with their movements (clumsiness) and their speech. They may also have seizures and a lack of coordination. This form of the disease can lead to a vegetative state by early adolescence.
You can get Tay Sachs Disease if you have both faulty genes for it. This happens because you inherit one mutated gene from each parent. However, you might not have any signs or symptoms of Tay Sachs Disease if only one of your parents has the faulty gene.