Tay-Sachs disease synonyms
What other names are the Tay-Sachs disease known by? Synonyms and other terms with which Tay-Sachs disease is known.
Tay-Sachs disease, also known as GM2 gangliosidosis, is a rare and devastating genetic disorder that primarily affects the nervous system. It is named after Warren Tay and Bernard Sachs, the physicians who first described the condition in the late 19th century.
Individuals with Tay-Sachs disease lack a specific enzyme called hexosaminidase A, which is responsible for breaking down a fatty substance called GM2 ganglioside. As a result, this fatty substance accumulates in the nerve cells of the brain and spinal cord, leading to progressive damage and dysfunction.
The disease is typically characterized by neurological deterioration that begins in infancy. Infants with Tay-Sachs disease may appear normal at birth, but by around 6 months of age, they start to show signs of developmental regression. These signs may include loss of motor skills, muscle weakness, decreased eye contact, seizures, and excessive startle response. As the disease progresses, children with Tay-Sachs experience vision and hearing loss, intellectual disability, paralysis, and ultimately, life-threatening complications.
Tay-Sachs disease is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for the disease to occur in their child. While there is currently no cure for Tay-Sachs disease, genetic testing and counseling can help identify carriers and provide information for family planning.
