Tay-sachs disease

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Tay-Sachs Disease

Tay-Sachs disease (/ˌteɪ ˈsæks/) is a rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

Etymology

The disease is named for Warren Tay (1843–1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. It is also named for Bernard Sachs (1858–1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease.

Definition

Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form of Tay-Sachs, known as Infantile Tay-Sachs, becomes apparent in infancy.

Symptoms

Symptoms of Tay-Sachs disease may include the cherry-red spot in the eye, progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response.

Causes

Tay-Sachs is caused by mutations in the HEXA gene that result in a deficiency of the enzyme hexosaminidase A. This enzyme plays a critical role in the brain and spinal cord by breaking down a fatty substance called GM2 ganglioside.

Diagnosis

Diagnosis of Tay-Sachs disease involves a physical examination, a serum hexosaminidase A test, and genetic testing.

Treatment

There is currently no cure for Tay-Sachs disease. Treatment involves managing symptoms and providing supportive care.

Prognosis

The prognosis for individuals with Tay-Sachs disease is typically poor. Most children with the condition do not survive past early childhood.

See Also

External links

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