Tay-Sachs Disease By: Pavan Kumar

What kind of disorder is it?

- Tay Sachs disease is sex-linked, which means that it can be passed on to children.

- Tay-Sachs disease is a recessive mutation. The disorder results from mutations of a gene known as the HEXA gene.

- The HEXA gene regulates the productions of a type of enzyme.

- The HEXA gene is mapped to the long arm of chromosome 15.

- The disease is broken down into three categories, infantile, juvenile, and Late-onset Tay-Sachs disease.

What are the Symptoms of Tay-Sachs Disease?

- Infantile Symptoms: Symptoms in a baby will only appear when it is 3-6 months old. One symptom will be mild muscle weakness. Other symptoms will be, twitching, or jerking of muscles, and an exaggerated startle response, when there is a sudden noise. This is due to acoustic hypersensitivity. At around 6-10 months the infants may fail to gain new motor skills such as making eye contact. They will also have a gradual loss of vision, or muscle spasms.

- Juvenile Symptoms: This form will be anywhere from two to ten years old. The first signs are clumsiness and problems with coordination. This is due to having problems with controlling their body movements. There will also be behavioral problems such as loss of speech, life skills, and intellucatial disabilities. Children will also become less responsive to their environment and surroundings.

- Late-Onset Symptoms: In this stage, symptoms vary greatly from person to person. Some symptoms include clumsiness , muscle weakness, seizures, slurred speech, and an inability to coordinate voluntary movements and difficulty swallowing.

How is the disorder diagnosed?

- The disorder is diagnosed through specialized evaluations such as blood tests that test how much hexosaminidase A is in the body. In people with this disease the levels will be non-existent or close to it.

- Also molecular genetic testing can also confirm the diagnosis of Tay-Sachs disease. This can detect mutations in the HEXA gene known to cause the disorder but is available only as a diagnostic service at specialized laboratories.

- Tay-Sachs disease can also be diagnosed before the baby is born, based on specialized tests such as amniocentesis and chorionic villus sampling.

- In amniocentesis a sample of fluid that surround the developing fetus is removed, in chorionic villus sampling, tissue samples from a portion of the placenta are removed.

- Blood tests can also detect carriers for the disease.

How do you Treat this Disorder?

- There is no cure for Tay-Sachs disease but there are ways to treat the symptoms.

- Treatment will require a whole team of pediatricians, neurologists, speech pathologists, and specialists who asses and treat hearing problems as well as eye specialists. Genetic Counseling may also be needed and also Psychosocial support is recommended for the entire family.

- Also, this disease will make the victim have more problems with eating which means that the patient will also need nutritional support. With this, a feeding tube may also be needed.

- Anticonvulsants may be used to treat seizures caused by the disease, but this may not be effective to all people.

What is the Life Expectancy of Someone with this Disorder?

- Someone who was born with this disease is expected to not live past early childhood

- It is very rare to appear in adults but the disease will still progress and unfortunately will always be fatal.

How does this Disease Affect a Person's Everyday Life?

- As a baby, as the disease progresses, the baby will lose basic bodily functions such as crawling or rolling over so in its everyday life it will need help moving and if it lives longer it will need a wheelchair.

- As an adult it will need a wheelchair and will also need an aid-worker to help the adult around the house and do basic everyday-things such as baths and making food.

This is my Picture of Someone With Tay-Sachs Disease:

A baby with Tay-Sachs Disease





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