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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tay Sachs disease


Other Names for this Disease

  • B variant GM2 gangliosidosis
  • Gangliosidosis GM2 , type 1
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • Hexosaminidase A deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have a friend who has adult-onset Tay-Sachs disease. His symptoms began during middle school. What is the life-expectancy for individuals with this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is late-onset Tay-Sachs disease?

Late-onset Tay-Sachs disease is a rare form of Tay-Sachs disease characterized by an unsteady gait and progressive neurological deterioration.[1] Individuals with this type of Tay-Sachs disease have significantly reduced levels of Hex-A (not a complete absence, as is seen in infants with the classic type).[2] Symptoms typically begin during adolescence or early adulthood.[1][2] Until recently, may individuals with this condition were misdiagnosed. Accurate diagnosis can now be made through enzyme assay and DNA analysis.[2]
Last updated: 1/20/2010

What are the symptoms of late-onset Tay-Sachs disease?

Symptoms of late-onset Tay-Sachs disease usually present in adolescence or early adulthood, with dysarthria (slurred speech), proximal (trunk) muscle weakness, tremor and ataxia (lack of coordination). Muscle cramps, especially cramps in the legs at night, and fasciculations (muscle twitching) are common. While symptoms vary between individuals, weakness of the proximal muscles is a symptom common to all. Examples of proximal muscle weakness include difficulty rising from a seated position, trouble getting out of bed, and struggling with balance during activities like getting dressed. Some individuals may also experience manic-depression or psychotic episodes.[2]  
Last updated: 1/20/2010

What is the life expectancy for individuals with late-onset Tay-Sachs disease? 

Since late-onset Tay-Sachs is a recently recognized type of Tay-Sachs disease, the course is not completely known. Life expectancy is probably not reduced.[2]
Last updated: 1/20/2010

References
Other Names for this Disease
  • B variant GM2 gangliosidosis
  • Gangliosidosis GM2 , type 1
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • Hexosaminidase A deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.