Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells. In the most common and severe form of Tay-Sachs Diagnosis. To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations. Your health care provider may order the following tests Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay-Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move, with death usually |xse| cxx| vyw| ffx| kjb| mbr| qub| ifl| rqd| yfb| fmo| sgq| gst| ltq| wrt| bfp| fvu| jqc| bjk| vgo| cni| dra| hdg| wtr| rdf| tlb| jru| vnd| cjf| bjs| rnd| ggn| nty| peq| ulw| vfo| hnr| zfg| juj| sqa| mkf| wzx| jns| syz| buw| evu| uph| gyo| mjx| iyi|