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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

Tay Sachs Disease

By Dana Hienbuecher

other names
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
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.
symptoms
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.
is tsd common
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.
is it deadly
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. 
can a person be tested
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

is there treatment
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.
are there support groups
Are There Support Groups?
  • Yes, one support group is The National Tay-Sachs and Allied Diseases support group.
other facts
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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