Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Tay Sachs Disease


Synonyms of Tay Sachs Disease
  • Amaurotic Familial Idiocy
  • Amaurotic Familial Infantile Idiocy
  • Cerebromacular Degeneration
  • GM2 Gangliosidosis, Type 1
  • Hexoaminidase Alpha-Subunit Deficiency (Variant B)
  • Infantile Cerebral Ganglioside
  • Infantile Sipoidosis GM-2 Gangliosideosis (Type S)
  • Lipidosis, ganglioside, infantile
  • Sphingolipidosis, Tay-Sachs

Disorder Subdivisions



    General Discussion
    Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. This abnormal accumulation of gangliosides leads to progressive dysfunction of the central nervous system. This disorder is categorized as a lysosomal storage disease. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or digest nutrients, including certain complex carbohydrates and fats.

    Symptoms associated with Tay-Sachs disease may include an exaggerated startle response to sudden noises, listlessness, loss of previously acquired skills (i.e., psychomotor regression), and severely diminished muscle tone (hypotonia). With disease progression, affected infants and children may develop cherry-red spots within the middle layer of the eyes, gradual loss of vision, and deafness, increasing muscle stiffness and restricted movements (spasticity), eventual paralysis, uncontrolled electrical disturbances in the brain (seizures), and deterioration of cognitive processes (dementia). The classical form of Tay-Sachs disease occurs during infancy; an adult form (late-onset Tay-Sachs disease) may occur anytime from adolescence to the mid 30s.

    Tay-Sachs disease is inherited as an autosomal recessive trait. The disorder results from changes (mutations) of a gene known as the HEXA gene, which regulates production of the hexosaminidase A enzyme. The HEXA gene has been mapped to the long arm (q) of chromosome 15 (15q23-q24). .

    Organizations related to Tay Sachs Disease
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
      PO Box 64714
      Ontario Intl L3R OM9
      Phone #: 905--47-9-8701
      800 #: 800--66-7-1846
      e-mail: lori.mps@rogers.com
      Home page: http://www.mpssociety.ca
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: http://www.hideandseek.org
    • Instituto de Errores Innatos del Metabolismo
      Carrera 7 No 43-82
      S.A. Edificio 53 Lab. 305A None None
      Phone #: 50 -1 3-208320
      800 #: N/A
      e-mail: abarrera@javeriana.edu.co
      Home page: http://www.javeriana.edu.co
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: info@letthemhear.org
      Home page: http://www.letthemhear.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Institute of Child Health and Human Development
      31 Center Dr
      Bethesda MD 20892
      Phone #: 301-496-5133
      800 #: --
      e-mail: N/A
      Home page: http://www.nichd.nih.gov/
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • National Tay-Sachs and Allied Diseases Association, Inc.
      2001 Beacon Street
      Brighton MA 02135
      Phone #: 617-277-4463
      800 #: 800-906-8723
      e-mail: info@ntsad.org
      Home page: http://www.NTSAD.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html