Guide To Metabolic Disorders

Tay-Sachs Disease

Tay-Sachs disease is a disease seen primarily in infants that has adverse effects on the nervous system. It is a progressive neurodegenerative disorder and is fatal in almost all cases. This disease is caused by a genetic mutation on chromosome 15 that results in the absence of a protein referred to as hexosaminidase A. Brain cells are destroyed by a buildup of chemicals referred to as gangliosides when an individual does not have hexosaminidase A. Symptoms of infantile Tay-Sachs disease include decreased muscle strength, blindness, deafness, increased startle response, paralysis, seizures, slow growth, and spasticity.

Late-onset forms of Tay-Sachs disease produce symptoms such as muscle weakness, unsteady gait, tremors, slurred speech, and memory problems. Certain prenatal tests, including amniocentesis and chorionic villus sampling, can detect Tay-Sachs disease before an individual's birth. Blood enzyme analysis and eye exams are performed to diagnose late-onset forms of Tay-Sachs disease. There is no method of treatment for Tay-Sachs disease aside from palliative care with pain medication, anti-epileptics, feeding tubes, physical therapy, and respiratory care.