Overview of Tay Sachs Disease
2.9 هزار بار بازدید -
2 سال پیش
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Terence R. Flotte, MD, Provost
Terence R. Flotte, MD, Provost and Executive Deputy Chancellor of the University of Massachusetts Medical School, gives an overview of Tay-Sachs disease.
As Dr. Flotte explains, Tay-Sachs disease (GM2 Gangliosidosis) is a rare neurodegenerative disease caused by mutations in the HEXA gene. Mutation of this gene leads to a deficiency of the enzyme, beta-hexosaminidase A, which is needed to break down GM2 ganglioside. This leads to build-up of GM2 ganglioside in neurons. In general, the less beta-hexosaminidase A a Tay-Sachs patient has, the more severe the disease and the earlier that symptoms appear.
Dr. Flotte goes on to describe the three forms of Tay-Sachs disease, which are determined by general age of onset. The first form, infantile Tay-Sachs disease is the most common severe form and is characterized by symptom-onset in the first few months of life. Symptoms of the infantile form include loss of skills learned, seizures, and loss of muscle and cognitive functions. Children with this form usually do not survive past early childhood. The second form is juvenile Tay-Sachs disease in which symptoms appear any time during childhood; though, it is typically between ages 2 and 5 years. Symptoms of this form include behavior and cognitive problems, gradual loss of skills, frequent respiratory infections, and seizures. People with this form typically do not survive past their teenage years. Late onset/adult Tay-Sachs disease is the least severe form, with symptoms appearing in late childhood to adulthood. Symptoms may include clumsiness, muscle weakness, psychiatric disorders, and gradual loss of skills, often leading to the need for mobility assistance. Intellect and behavior become impaired in some cases. The lifespan varies from shortened to unaffected.
Currently there are no targeted therapies approved for Tay-Sachs disease but therapies are in development.
To learn more about Tay-Sachs disease and other rare neurological disorders, visit https://checkrare.com/diseases/neurol...
As Dr. Flotte explains, Tay-Sachs disease (GM2 Gangliosidosis) is a rare neurodegenerative disease caused by mutations in the HEXA gene. Mutation of this gene leads to a deficiency of the enzyme, beta-hexosaminidase A, which is needed to break down GM2 ganglioside. This leads to build-up of GM2 ganglioside in neurons. In general, the less beta-hexosaminidase A a Tay-Sachs patient has, the more severe the disease and the earlier that symptoms appear.
Dr. Flotte goes on to describe the three forms of Tay-Sachs disease, which are determined by general age of onset. The first form, infantile Tay-Sachs disease is the most common severe form and is characterized by symptom-onset in the first few months of life. Symptoms of the infantile form include loss of skills learned, seizures, and loss of muscle and cognitive functions. Children with this form usually do not survive past early childhood. The second form is juvenile Tay-Sachs disease in which symptoms appear any time during childhood; though, it is typically between ages 2 and 5 years. Symptoms of this form include behavior and cognitive problems, gradual loss of skills, frequent respiratory infections, and seizures. People with this form typically do not survive past their teenage years. Late onset/adult Tay-Sachs disease is the least severe form, with symptoms appearing in late childhood to adulthood. Symptoms may include clumsiness, muscle weakness, psychiatric disorders, and gradual loss of skills, often leading to the need for mobility assistance. Intellect and behavior become impaired in some cases. The lifespan varies from shortened to unaffected.
Currently there are no targeted therapies approved for Tay-Sachs disease but therapies are in development.
To learn more about Tay-Sachs disease and other rare neurological disorders, visit https://checkrare.com/diseases/neurol...
2 سال پیش
در تاریخ 1401/01/24 منتشر شده
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