Tay Sachs Disease / Disease

Diseases & Conditions

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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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.letthemhear.org
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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