Tay-Sachs disease - Symptoms and causes - Mayo Clinic
网页2022年1月21日 · 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.
Tay–Sachs disease - Wikipedia
网页Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] 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. [1]
Tay-Sachs Disease: What It Is, Causes, Symptoms & Treatment
网页2023年10月1日 · Tay-Sachs disease is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord. Symptoms like developmental delays, hearing and vision loss usually begin around 6 months of age.
Tay Sachs Disease - Symptoms, Causes, Treatment | NORD
网页2021年5月20日 · Learn about Tay Sachs Disease, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources.
Tay-Sachs disease - MedlinePlus
网页Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by the death of nerve cells in the brain and spinal cord (central nervous system). The most common form of Tay-Sachs disease, known as infantile Tay-Sachs disease, becomes apparent early in life.
Tay-Sachs Disease - StatPearls - NCBI Bookshelf
网页2023年1月25日 · Tay-Sachs disease (TSD) is a progressive, lethal neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase-A, which results in the accumulation of GM2 gangliosides. Based on the presentation age, the disease is classified into infantile, juvenile, and adult forms.
About Tay-Sachs Disease - National Human Genome Research …
网页2011年3月17日 · Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).
Tay-Sachs disease - Diagnosis and treatment - Mayo Clinic
网页2022年1月21日 · Tay-Sachs disease. This rare, inherited disease causes a buildup of fatty acids that damages the brain and typically results in muscle control loss, blindness and paralysis.
Tay-Sachs disease | About the Disease | GARD - Genetic and Rare ...
网页Tay-Sachs disease is a rare, inherited neurodegenerative disease. People with Tay-Sachs disease do not have enough of an enzyme called beta-hexosaminidase A. The less enzyme a person has, the more severe the disease and the earlier that symptoms appear.
Tay-Sachs disease - NHS
网页Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal. It used to be most common in people of Ashkenazi Jewish descent (most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.