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Call for an appointment with your provider if your child has other noticeable behavioral changes. There is no known way to prevent this disorder.

Tay-Sachs Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Genetic testing can detect if you are a carrier of the gene for this disorder. If you or your partner is from an at-risk population, you may wish to seek genetic counseling before starting a family. If you are already pregnant, testing the amniotic fluid can diagnose Tay-Sachs disease in the womb. Kwon JM. Neurodegenerative disorders of childhood.

Tay-Sachs Disease

Nelson Textbook of Pediatrics. Philadelphia, PA: Elsevier; chap The molecular, biochemical, and cellular basis of genetic disease. Thompson and Thompson Genetics in Medicine. Wapner RJ, Dugoff L. Prenatal diagnosis of congenital disorders. Updated by: Anna C. Review provided by VeriMed Healthcare Network. Editorial team. Tay-Sachs disease. Late-onset Tay-Sachs disease, which affects adults, is very rare. Symptoms may include any of the following: Deafness Decreased eye contact, blindness Decreased muscle tone loss of muscle strength , loss of motor skills, paralysis Slow growth and delayed mental and social skills Dementia loss of brain function Increased startle reaction Irritability Listlessness Seizures.

Exams and Tests. Tests that may be done are: Enzyme exam of blood or body tissue for hexosaminidase levels Eye exam reveals a cherry-red spot in the macula.

Nineteen Genetic Diseases That Ashkenazi Jews Need to Know About

The following groups can provide more information on Tay-Sachs disease: National Organization for Rare Disorders -- rarediseases. Outlook Prognosis. Possible Complications.

  1. Condition Description.
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When to Contact a Medical Professional. Go to the emergency room or call the local emergency number such as if: Your child has a seizure of unknown cause The seizure is different from previous seizures The child has difficulty breathing The seizure lasts longer than 2 to 3 minutes Call for an appointment with your provider if your child has other noticeable behavioral changes.

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  • The condition is usually fatal by around 3 to 5 years of age, often due to complications of a lung infection pneumonia. Rarer types of Tay-Sachs disease start later in childhood juvenile Tay-Sachs disease or early adulthood late-onset Tay-Sachs disease. The late-onset type doesn't always shorten life expectancy. Tay-Sachs disease is caused by a problem in a child's genes that means their nerves stop working properly. A child can only have it if both parents have this faulty gene.

    The parents themselves don't usually have any symptoms — this is known as being a "carrier".

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    If you're pregnant or planning a pregnancy, you may be referred to a genetic counsellor to discuss having a test to see if you're at risk of having a child with Tay-Sachs disease and talk about your options. There's currently no cure for Tay-Sachs disease. The aim of treatment is to make living with it as comfortable as possible.

    Your care team will talk to you about end of life issues, such as where you'd like your child to receive care and if you'd like them to be resuscitated if their lungs stop working.

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    If you're interested in finding out more about research into treatments for Tay-Sachs disease, ask your care team about any research you might be able to get involved in. This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Find out more about the register.