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Diseases

Genetic and Rare Diseases Information Center (GARD)

Tay-Sachs disease


Other Names for this Disease
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • B variant GM2 gangliosidosis
  • Hexosaminidase A deficiency
  • Hexosaminidase alpha-subunit deficiency (variant B)
Related Diseases
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Treatment

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How might children with Tay-Sachs disease be treated?

Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specific treatment is available for Tay-Sachs disease, treatment is directed at the symptoms and major associated conditions.[1]

Treatment is supportive and aimed at providing adequate nutrition and hydration. The airway must be protected. Seizures can be controlled initially with conventional anticonvulsant medications such as benzodiazepines, phenytoins, and/or barbiturates, but the progressive nature of the disease may require alteration of dosage or medication. Infectious diseases should be managed. In advanced disease, good bowel movement should be maintained and severe constipation should be avoided. Good hydration, food additives, stool softeners, laxatives, and other measures should be employed to avoid severe constipation.[1]
Last updated: 8/14/2012

References
  1. Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1218/. Accessed 8/14/2012.


GARD Video Tutorial

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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Tay-Sachs disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • B variant GM2 gangliosidosis
  • Hexosaminidase A deficiency
  • Hexosaminidase alpha-subunit deficiency (variant B)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.