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Tay Sachs Disease

Tay Sachs Disease. By Dana Hienbuecher. Other Names. Abbreviation: TSD Other names include GM2 gangliosidosis and Hexosaminidase A deficiency. Bernard Sachs, one of the neurologist who first observed Tay Sachs. Most likely to get disorder….

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Tay Sachs Disease

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  1. Tay Sachs Disease By Dana Hienbuecher

  2. Other Names • Abbreviation: TSD • Other names include GM2 gangliosidosis and Hexosaminidase A deficiency Bernard Sachs, one of the neurologist who first observed Tay Sachs.

  3. Most likely to get disorder… • No one really understands fully, but it appears to be more common in the Eastern European Jewish, Cajun, and French Canadian population. • More common in infants.

  4. Symptoms • TSD is an autosomal recessive disorder caused by a mutation on chromosome 15. Symptoms include: • Infantile TSD (from birth to about age 4): Difficulty to swallow, mental and physical functions limited, paralysis, blindness, and deafness. • Juvenile TSD (from 5 to about 15): motor and speech skills become impaired, swallowing difficulties, and spasticity. • Adult/Late Onset TSD(Between age 20 to 30): Difficulty swallowing, mental and physical functions limited, schizophrenic-like symptoms. • A person usually cannot tell if another person has TSD, unless it is in its later stages.

  5. Is TSD Common? • Not really. It is more common for the Eastern European Jewish, Cajun, and French Canadian population to actually be affected by the disease. • 1.2 million people in the U.S. are probable carriers for the disease.

  6. Is It Deadly? • Infantile TSD: Unfortunately yes. Most infants with TSD do not live past the age of 4.  • Juvenile TSD: Unfortunately yes. It is extremely rare, but children with TSD usually die between the ages of 5 and 15.  • Adult/Late Onset TSD: Not always. Less common, most adults affected can live long lives. 

  7. Can a Person be Tested? • Yes. A few ways a person can be tested: • A person with TSD has a “red spot” in the back of their eyes towards the retina. This can be easily spotted by an ophthalmoscope. • Another way it can be diagnosed is a microscopic analysis of certain neurons. Red spot

  8. Is There Treatment? • There is currently no cure or treatment for TSD. Because the disease is often fatal, even with some medication, the symptoms would not go away.

  9. Are There Support Groups? • Yes, one support group is The National Tay-Sachs and Allied Diseases support group.

  10. Other Facts • The physicians that started to observe this disease, Warren Tay and Bernard Sachs, first started observing the disease in 1881. • There is a possibility that a cure can be found in the future through gene therapy, where the affected gene could be replaced or repaired.

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