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Other Names:. Eye diseases ; Metabolic disorders ; Nervous System Diseases. This disease is grouped under:. Summary Summary. Symptoms Symptoms. The first symptoms of Tay-Sachs disease may appear from infancy to adulthood, depending on how much beta-hexosaminidase A enzyme activity a person has if any. In the most common form, the infantile form , infants have no enzyme activity, or an extremely low level less than 0.
They typically appear healthy in the newborn period, but develop symptoms within 3 to 6 months of age. The first symptom may be an exaggerated startle response to noise. Infants with this form begin to lose milestones such as rolling and sitting regression and develop muscle weakness, which gradually leads to paralysis. They also lose mental functions and become increasingly unresponsive to their surroundings.
By 12 months of age, they begin to deteriorate more rapidly, developing blindness, seizures that are hard to treat, and difficulty swallowing. Infants with this form of Tay-Sachs disease typically do not survive past 4 years of age.
The most common cause of death is complications from lung inflammation bronchopneumonia. Depending on exactly how much activity there is, symptoms may begin any time during childhood, most commonly between ages 2 and 5. Children with this form often develop frequent infections, behavioral problems, and have more slowly progressive loss of movement control, speech, and mental function. They may also begin to have seizures and lose their vision. Children with the juvenile form often spend several years having no responsiveness or awareness before passing away in late childhood or adolescence.
Infection is a common cause of death. Symptoms and severity vary more among people with this form. Symptoms may begin in childhood to adulthood, but the disease is often not diagnosed until adolescence or adulthood. Neurological impairment is slowly progressive and may lead to clumsiness and loss of coordination, muscle weakness, tremors , difficulty speaking or swallowing, and uncontrollable muscle spasms and movements.
Many people eventually need mobility assistance. In some people with this form, the first obvious symptom is a severe psychiatric disorder such as schizophrenia. Impaired intellect or dementia may or may not develop.
Without this protein, a molecule called GM2 ganglioside builds up in nerve cells in the brain, destroying these cells. You have to receive two copies of the defective gene — one from each parent — to inherit the disease. If only one parent passes down the defective gene, the child becomes a carrier.
The disease is most common among Ashkenazi Jews, whose families descend from Jewish communities in Central or Eastern Europe. If you or your spouse is a carrier, genetic testing can help you decide whether or not to have children. Prenatal tests , such as chorionic villus sampling CVS and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 13 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen.
Amniocentesis is done between 15 and 20 weeks of pregnancy. If a child is displaying symptoms of Tay-Sachs disease, a doctor can perform a physical examination and collect a family history. Typically, treatment is supportive, focused on reducing symptoms, and improving the quality of life for the patient and family. This is also known as palliative care.
Emotional support for the family is also important. Seeking out support groups can help you cope. Taking care of a sick child is emotionally challenging and talking with other families managing the same disease can be comforting. Tay-Sachs disease is a condition that runs in families. A child gets it by inheriting the gene for it from both parents.
The parents are carriers of the gene. This means that they each have one of the genes for Tay-Sachs disease. Carriers of Tay-Sachs disease do not show any symptoms of it. A doctor may suspect Tay-Sachs when a baby has movement problems or stops doing things they used to do, like crawling or sitting up. Doctors can diagnose the condition by doing an exam and ordering blood tests.
Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Tay-Sachs disease is a rare disorder passed from parents to child. Request an Appointment at Mayo Clinic.
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