tay-sachs disease…

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tay-sachs disease, familial disorder, affects more than 1 member of a family, results in early death, found predominantly in ashkenazi jewish families, tay-sachs disease, a deficiency of hexosaminidase, an enzyme that is important, in the metabolism of gangliosides, a type of chemical substance found in nerve tissue, gangliosides, particularly ganglioside gm2, accumulate, in the brain, causing neurological deterioration, tay-sachs disease is inherited, a recessive gene, 1 in 25 members, the ashkenazi jewish population carries the gene, tay-sachs has been classified into infantile, juvenile, adult forms, depending on the type of symptoms, first appear, majority of people, tay-sachs have the infantile form, symptoms generally begin to appear, the child is 3, 6 months old, disease tends to progress rapidly, child, dies by the age of 4, 5 years, loss of motor skills, increased startle reaction, decreased eye contact, blindness, deafness, dementia, listlessness, irritability, seizures, paralysis, loss of nuscle function, decreased muscle tone, loss of muscle strength, delayed mental, social skills, slow growth, , family history, physical examination, enzyme analysis of blood, body tissue, hexosaminidase levels, eye examination, reveals a cherry-red spot, in the macula, , no treatment, tay-sachs disease, ways to make the patient more comfortable, stress of illness eased by joining support groups whose members share common experiences, tay-sachs, support group children affected, disease have progressive symptoms, die by 4, 5 years of age, symptoms appear, first 3, 10 months of life, progress to spasticity, seizures, loss of all voluntary movements, go, child has a seizure of unknown cause, seizure is different from previous seizures, child has difficulty breathing, seizure lasts longer than 2, 3 minutes, child experiences a seizure lasting less than 2, 3 minutes, has other noticeable behavioral changes, , no known way, prevent this disorder, genetic testing, detect carriers, the gene, recommended, prior to conception, couples from at risk populations, prenatal diagnosis is possible from amniotic fluid studies.