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Tay-Sachs disease is a very rare genetic disorder that is usually impossible to treat or cure. Almost all infants who acquire the disease have fatal complications before the age of four, and older patients who develop symptoms have drastically decreased life spans as well. The majority of current Tay-Sachs treatments are supportive in nature: they are designed to ease pain and other symptoms and help patients remain as comfortable as possible as the disease progressively worsens. Ongoing genetic and pharmaceutical research does hold some promise in producing effective Tay-Sachs treatments in the near future, though many more studies are needed before specific therapies are deemed safe. There is evidence to suggest that stem cell transplants, enzyme replacement, and gene therapy can possibly lead to a reliable Tay-Sachs cure.
Patients with Tay-Sachs have defective Hex-A genes. They fail to produce functioning versions of a specific type of enzyme called beta-hexosaminidase A (BHA). Without BHA, nerve cells in the brain and spinal cord are unable to break down fatty deposits known as gangliosides, which leads to progressive neural damage and cell death. Since there are no proven medications or therapies to improve BHA functioning, current Tay-Sachs treatments are geared toward combating the various symptoms the disease causes.
Seizures are a fairly common complication of Tay-Sachs, so anticonvulsant medications are often prescribed to reduce their severity and frequency. Other drugs may be given to combat blood pressure issues, depression, poor muscle functioning, and respiratory infections. Patients who have swallowing and breathing difficulties need to receive oxygen therapy and be fitted with gastric tubes to ensure they receive proper nutrition. Adolescents and adults who develop Tay-Sachs are often scheduled for physical therapy to help them maintain muscle strength and learn how to stay mobile despite their disabilities. Despite major efforts at supportive care and delaying the onset of neurological problems, patients do eventually succumb to the disease.
There are several theories currently being studied that may lead to successful Tay-Sachs treatments in the future. One experimental idea holds that defective beta-hexosaminidase A enzymes can be replaced with healthy ones in a patient's blood. Enzyme replacement therapy is a well established treatment for some genetic diseases that affect the lungs, heart, or other body organs, but Tay-Sachs presents unique challenges because enzyme deficiencies affect the brain. There is not yet an effective way to get healthy enzymes across the blood-brain barrier.
Other experimental Tay-Sachs treatments include gene therapy and stem cell transplantation. Gene therapy involves introducing large quantities of working Hex-A genes into a patient's system in hopes that his or her DNA incorporates them appropriately. Stem cells harvested from donor bone marrow or umbilical cord blood may also be beneficial to Tay-Sachs patients. Healthy stem cells that can code the Hex-A gene correctly may be able to raise enzyme levels in the brain. With continuing testing, many doctors are confident that the disease will one day be curable.
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