Tay-Sachs disease is a rare genetic illness that is handed down from father to son. It is caused by the lack of an enzyme that aids in the breakdown of fatty compounds. These fatty molecules, known as gangliosides, accumulate to hazardous amounts in the brain and spinal cord, impairing nerve cell activity.
Signs and symptoms of the most frequent and severe form of Tay-Sachs disease appear between the ages of 3 and 6 months. As the condition advances, growth slows and muscles weaken. This causes convulsions, visual and hearing loss, paralysis, and other serious problems over time. Children with this kind of Tay-Sachs illness usually only live a few years.
Some children with the juvenile form of Tay-Sachs disease may live into their teen years. Some people may have a late-onset variant of Tay-Sachs disease, which is usually milder than versions that begin in childhood.
If you have a family history of Tay-Sachs disease or are a member of a high-risk group and want to have children, your doctor will strongly advise you to have genetic testing and genetic counseling.
WHAT ARE THE SYMPTOMS OF TAY-SACHS DISEASE?
Tay-Sachs disease is classified into three types: infantile, juvenile, and late onset/adult.
Infantile form
In the most frequent and severe type, known as infantile form, a newborn often begins to develop signs and symptoms between the ages of 3 and 6 months. Survival is generally limited to a few years. Among the signs and symptoms are:
- Exaggerated startle response when the infant hears loud noises
- Spots in the eyes that are "cherry-red"
- Motor skill loss, including inability to turn over, crawl, or sit up
- Blindness and vision loss
- Deafness and hearing loss
- swallowing difficulties
- Loss of mental functioning and inability to respond to stimuli
- Muscle weakening that leads to paralysis
- Movement issues
- Seizures
- Increase in skull size (progressive macrocephaly)
Juvenile form
Tay-Sachs disease in children is less prevalent. The intensity of the signs and symptoms varies and begins in childhood. Survival usually lasts into the adolescent years. Among the signs and symptoms are:
- Problems with behavior
- Slow deterioration of eyesight and speech
- Mental function and responsiveness decline
- Seizures
- Gradual loss of abilities and motor control
- Frequent respiratory infections
Adult form/late onset
This is an uncommon and milder variant, with symptoms ranging from late infancy through adulthood. The severity of symptoms varies widely, and this kind does not necessarily have an effect on life expectancy. The following signs and symptoms may appear gradually:
- Muscle fatigue
- Loss of coordination and clumsiness
- Speech and swallowing difficulties
- Psychiatric issues
- Muscle spasms and tremors
- Loss of walking ability
- Sometimes there is a loss of mental function.
WHAT ARE THE CAUSES OF TAY-SACHS DISEASE?
Tay-Sachs disease is a hereditary illness that is handed down from one generation to the next. It happens when a child inherits from both parents a fault (mutation) in the HEXA gene.
Tay-Sachs disease is caused by a genetic mutation that produces a lack of the enzyme beta-hexosaminidase A. This enzyme is necessary for the degradation of the fatty molecule GM2 ganglioside. Fatty material accumulation harms nerve cells in the brain and spinal cord. The severity and age of start of the disease are related to the amount of enzyme that is still generated.
WHAT ARE THE RISK FACTORS FOR TAY-SACHS DISEASE?
Because the gene mutation that causes Tay-Sachs disease is more common in specific groups, having ancestors from:
- Jewish communities in Eastern and Central Europe (Ashkenazi Jews)
- Certain Quebec French Canadian communities
- Louisiana's Cajun community
- Pennsylvania's Old Order Amish community
A blood test can be used to identify carriers of the Tay-Sachs disease-causing HEXA gene mutation. Following testing, genetic counseling is advised.
HOW IS TAY-SACHS DISEASE DIAGNOSED?
To determine if your kid has Tay-Sachs disease, your doctor will ask about symptoms and any family inherited problems, as well as do a physical exam. For nervous system and eye checks, your kid may need to see a neurologist and an ophthalmologist.
Your doctor may prescribe the following tests for you:
- Diagnostic blood test: The blood test measures the amount of the enzyme hexosaminidase A in the blood. Tay-Sachs disease has low or non-existent levels.
- Genetic testing: This test can look at the HEXA gene to see if there are any mutations that could suggest Tay-Sachs disease.
- Eye exam: During an eye check, the doctor may see a cherry-red patch in the back of the eyes, which is an indication of the condition.
Tay-Sachs disease can be tested for during pregnancy by extracting a little portion of the placenta (chorionic villi sampling) or a small sample of the amniotic fluid around the infant (amniocentesis).
WHAT ARE THE TREATMENTS FOR TAY-SACHS DISEASE?
There is no cure for Tay-Sachs disease, and no therapies have been shown to decrease the illness's course. Some therapies can aid in the management of symptoms and the prevention of consequences. The purpose of therapy is to provide support and comfort.
Among the supportive treatments are:
- Medication: There are a variety of prescription drugs available to alleviate symptoms and avoid consequences, such as anti-seizure meds or antibiotics for infection.
- Respiratory care: Accumulated mucus in the lungs is frequent and increases the risk of lung infections that cause breathing difficulties. Mucus in the lungs can be removed using chest physiotherapy (CPT), exercise, and other treatments. To lower the danger of mucus collection and avoid aspiration pneumonia, medications that inhibit saliva production and positioning strategies are additional available.
- Language and speech therapy: Speech and language therapists can help with swallowing difficulties.
- Hydration and nutrition: By breathing food or fluids into the lungs during eating, your kid may have difficulty swallowing or develop respiratory difficulties. To avoid these issues, your doctor may advise you to use an assisted feeding device, such as a feeding tube. A feeding tube can be put through your child's nose and into the stomach, or a feeding tube can be surgically implanted directly into the stomach (gastrostomy tube).
- Physical therapy: As the condition advances, your kid may benefit from physical therapy to help retain joint flexibility and as much range of motion as possible. Physical therapy can help to decrease or postpone joint stiffness as well as the loss of function and discomfort that can occur as a result of compromised muscles.
- Occupational therapy: These therapists might suggest exercises and assistive gadgets to aid with everyday living.
Potential future treatments
Gene therapy, stem cell transplantation, and enzyme replacement therapy research may someday lead to a cure or treatment to reduce the course of Tay-Sachs disease.