About The Medical Condition Tay-Sachs Disease
Find the definition of the medical term Tay-Sachs Disease. Tay-Sachs Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Tay-Sachs Disease
| Tay-Sachs Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition 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)
|
More Medical 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
Medical Conditions Definitions Of The Day
- MAPKK ‐ A serine-threonine protein kinase family whose members are components…
- Factor, Predisposing ‐ The relating of causes to the effects they produce. Causes are…
- Viruses, Lymphoproliferative ‐ A subfamily of HERPESVIRIDAE characterized by variable reproductive…
- Ro 40-5967 ‐ A benzimidazoyl-substituted tetraline that selectively binds…
- Optimum Population ‐ The pattern of any process, or the interrelationship of phenomena,…
- Gene, MDR ‐ Genes responsible for multidrug resistance resulting from their…
- Specialist, Information ‐ Organized services to provide information on any questions an…
- Marker, Serum ‐ Measurable and quantifiable biological parameters (e.g., specific…
- Fixation, Nitrogen ‐ Ability of certain bacteria, fungi, and blue-green algae to convert…
- Thioguanine Hemihydrate ‐ An antineoplastic compound which also has antimetabolite action.…