GM2+Gangliosidosis+Symptoms

=__GM2 Gangliosidosis Symptoms__=

All GM2 gangliosidosis diseases cause intralysosomal storage of a specific glycosphingolipid, the GM2 ganglioside. Gangliosides are glycolipids that are found in the plasma membrane in neural cells (the name is derived from the fact that they were first isolated from ganglion cells). The storage of GM2 gangliosides is a result of insufficient activity of hexosaminidase A, which is found in the lysosomes and breaks down glycolipids. When hexosaminidase A is not functioning properly, GM2 gangliosides can not be hydrolyzed, and the gangliosides build up in neural tissue, interfering with normal function. In infantile onset variants of the GM2 gangliosidosis diseases, symptoms usually begin to manifest around 3 months of age with death usually resulting by four or five years of age. The typical symptoms of Tay-Sachs and the other GM2 gangliosidosis diseases are:
 * [[image:Tay-sachsUMichpermission.jpg width="227" height="209" align="right" caption="Characteristic Cherry-red Spots on Macula (Image used with permission from Jonathan Trobe, University of Michigan)"]]Blindness
 * Deafness
 * Inability to swallow
 * Reduced muscle tone/muscular atrophy
 * Paralysis
 * Increased startle response
 * Seizures
 * Slow growth and mental development
 * Cherry red spots on the macula of the eye