Description

Tay-Sachs disease is a rare genetic disorder is passed from parents to children. It is caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and the spinal cord and affects the function of nerve cells.

In the most common and severe form of Tay-Sachs disease, the signs and symptoms begin to appear around 3 to 6 months of age. As the disease progresses, the development slows down, and the muscles begin to weaken. Over time, this leads to seizures, loss of vision and hearing, paralysis, and other important topics. Children with this form of Tay-Sachs disease usually live only a few years.

Less commonly, some kids have the juvenile form of the disease, Tay-Sachs disease and can live into their teen years. Rarely, some adults have a late-onset form of Tay-Sachs disease, a disease that often is less severe forms that begin in childhood.

If you have a family history of Tay-Sachs disease, or if you are a member of a group of high-risk and plan to have children, for health care providers to strongly recommend that genetic testing and genetic counseling.

Symptoms

There are three forms of Tay-Sachs disease: infantile, juvenile and late-onset/adult.

Infantile form

The most common and serious, which is called shape child, a baby usually begins to show the signs and symptoms for around 3 to 6 months of age. Survival is usually only a couple of years. Signs and symptoms may include:

  • Exaggerated startle response when the baby hears a loud noise
  • "Cherry-red spots in the eyes
  • The loss of motor skills, including flip, crawl and sit
  • Muscle weakness, progressing to paralysis
  • Movement problems
  • Seizures
  • The loss of vision and blindness
  • Hearing loss and deafness
  • Swallowing problems.
  • The loss of mental functions and the lack of response to the surrounding area
  • The growth in the size of the head (macrocephaly, progressive)

Juvenile form

The juvenile form of the disease, Tay-Sachs disease is less common. The signs and symptoms vary in severity and childhood. Survival is typically in adolescence. Signs and symptoms may include:

  • Behavior problems
  • Gradual loss of skills and the control of movement
  • Frequent respiratory infections
  • Slow loss of vision and speech
  • Decline in mental function and response capacity
  • Seizures

Last start/adult

This is a rare and less severe with signs and symptoms from late childhood to adulthood. The severity of symptoms varies greatly, and in this way is not always the impact of life expectancy. The signs and symptoms progress slowly and can include:

  • Muscle weakness
  • The clumsiness and loss of coordination
  • Tremors and muscle spasms
  • The loss of the ability to walk
  • Problems of speech and swallowing
  • Psychiatric disorders
  • Sometimes the loss of mental function

When to see a doctor

If you or your child has any of the signs or symptoms that may indicate Tay-Sachs disease, or if you have concerns about your child's development, schedule an appointment with your health care provider.

Causes

Tay-Sachs disease is a genetic disease that is passed from parents to their children. Occurs when a child inherits a defect (mutation) in the gene HEXA of both parents.

The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is needed to break down the fatty substance ganglioside GM2. The accumulation of fatty substances damage to the nerve cells in the brain and the spinal cord. The severity and age of onset of the disease refers to the amount of the enzyme is still occurring.

Risk factors

Due to the change in the gene that causes Tay-Sachs disease is found more frequently in certain populations, the risk factors for the disease Tay-Sachs disease include having ancestors from:

  • Eastern and Central european Jewish communities (Ashkenazi Jews)
  • Certain French-Canadian communities in Quebec
  • Cajun community of Louisiana
  • Old Order Amish community in Pennsylvania

A blood test can be used to identify carriers of the HEXA change in the gene that causes Tay-Sachs disease. Genetic counseling is recommended after the tests.

Diagnosis

To confirm that your child has Tay-Sachs disease, your doctor will ask about your symptoms and family, hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for the nervous system and the eye exams.

Your doctor may order the following tests:

  • Diagnosis of the blood test. The blood test to check levels of hexosaminidase A enzyme in the blood. The levels are low or absent in the Tay-Sachs disease.
  • The genetic testing. This test can examine the gene HEXA to identify if there are changes that indicate the Tay-Sachs disease.
  • Examination of the eyes. During an eye exam, the health care provider may see a cherry-red spot in the back of the eye, which is a sign of the disease.

Prenatal testing for Tay-Sachs disease can be done during pregnancy by the removal of a small sample of the placenta (the chorionic villus sampling) or by the removal of a small sample of the amniotic fluid surrounding the fetus (amniocentesis).

Treatment

There is No cure for Tay-Sachs disease, and no treatments are currently shown to slow the progression of the disease. Some treatments can help manage symptoms and prevent complications. The goal of treatment is to support and comfort.

Supportive treatments include:

  • The medication. A number of prescription medications are available to reduce symptoms and prevent complications: for example, the anti-seizure medications or antibiotics for the infection.
  • Respiratory care. Accumulated mucus in the lungs is common, and results in a high risk of lung infections which cause respiratory problems. Chest physiotherapy (CPT), exercise and other techniques can help remove mucus from the lungs. Drugs to reduce the production of saliva and positioning techniques are also options to reduce the risk of the buildup of mucus or to prevent aspiration pneumonia.
  • The nutrition and hydration. Your child may have trouble swallowing or develop respiratory problems from inhaling food or fluid in the lungs, while eating. To avoid these problems, your doctor may recommend a assistance of the device's power, such as a feeding tube. A feeding tube can be inserted through your child's nose and into the stomach, or a surgeon may insert surgically a feeding tube directly into the stomach (gastrostomy tube).
  • The physical therapy. As the disease progresses, your child may benefit from physical therapy to help keep joints flexible and to maintain the maximum capacity to move (range of motion) as possible. Physical therapy can delay the stiffness of the joints, and reduce or delay the loss of function and pain may be the result of the affected muscles.
  • Occupational therapy. These therapists can recommend activities and supportive devices to help with the daily functioning.
  • Speech and language therapy. Speech and language therapists can help with swallowing problems.

Potential future treatments

Research on treatments such as gene therapy, stem cell transplantation or enzyme replacement therapy, can eventually lead to a cure or treatment to slow the progression of the disease Tay-Sachs.

Coping and support

Ask your doctor to suggest the information and resources to help you and your family to meet your needs. Look for local support groups to connect with other families who share similar challenges.

Symptoms and treatment of Tay-Sachs disease