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Diseases » Tay Sachs Disease » Summary

What is Tay Sachs Disease?

What is Tay Sachs Disease?

  • Tay Sachs Disease: A condition which is causes GM2 gangliosidosis.
  • Tay Sachs Disease: An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory. (Menkes, Textbook of Pediatric Neurology, 5th ed pp89-96)
    Source - Diseases Database

Tay Sachs Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tay Sachs Disease, or a subtype of Tay Sachs Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Tay Sachs Disease as a "rare disease".
Source - Orphanet

Tay Sachs Disease: Introduction

Types of Tay Sachs Disease:

Broader types of Tay Sachs Disease:

How serious is Tay Sachs Disease?

Complications of Tay Sachs Disease: see complications of Tay Sachs Disease
Prognosis of Tay Sachs Disease: The severity of expression and the age at onset of Tay-Sachs varies from infantile and juvenile forms that exhibit paralysis, dementia, blindness and early death to a chronic adult form that exhibits neuron dysfunction and psychosis. (Source: Genes and Disease by the National Center for Biotechnology) ... Even with the best of care, children with Tay-Sachs disease usually die by age 5. (Source: excerpt from NINDS Tay-Sachs Disease Information Page: NINDS)

What causes Tay Sachs Disease?

Causes of Tay Sachs Disease: see causes of Tay Sachs Disease

What are the symptoms of Tay Sachs Disease?

Symptoms of Tay Sachs Disease: see symptoms of Tay Sachs Disease

Complications of Tay Sachs Disease: see complications of Tay Sachs Disease

Can anyone else get Tay Sachs Disease?

More information: see contagiousness of Tay Sachs Disease
Inheritance: see inheritance of Tay Sachs Disease

Tay Sachs Disease: Testing

Diagnostic testing: see tests for Tay Sachs Disease.

Misdiagnosis: see misdiagnosis and Tay Sachs Disease.

How is it treated?

Doctors and Medical Specialists for Tay Sachs Disease: Medical Geneticist ; see also doctors and medical specialists for Tay Sachs Disease.
Treatments for Tay Sachs Disease: see treatments for Tay Sachs Disease
Research for Tay Sachs Disease: see research for Tay Sachs Disease

Name and Aliases of Tay Sachs Disease

Main name of condition: Tay Sachs Disease

Other names or spellings for Tay Sachs Disease:

GM2-gangliosidosis, B, B1, AB variant, Gangliosidosis (GM2) Type1, Gangliosidosis GM2, Hexosaminidase A deficiency, HEXA deficiency, B variant GM2 gangliosidosis, TSD, GM2 gangliosidosis, type 1, Hexosaminidase alpha-subunit deficiency (variant B), Sphingolipidosis, Tay-Sachs

GM2 gangliosidosis type A0BH, Lysosomal hexosaminidase A deficiency Source - Diseases Database

Gangliosidosis (GM2) Type1, B variant GM2 gangliosidosis, Gangliosidosis GM2, HEXA deficiency, Hexosaminidase A deficiency, TSD, G(M2) Gangliosidosis, Type I, GM2 Gangliosidosis, Type I, Gangliosidosis G(M2), Type I, Gangliosidosis GM2, Type I, Hexosaminidase A Deficiency Disease
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Tay Sachs Disease: Related Conditions

Research the causes of these diseases that are similar to, or related to, Tay Sachs Disease:

  • Mild motor weakness
  • Occasional twitches of the eye (myoclonic jerks)
  • GM2 gangliosidosis
  • Cherry-red spot

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