Tay–Sachs disease - Symptoms, Early signs, and Prevention

Tay–Sachs disease is a genetic Disease.
The result of the disease is destruction of nerve cells in the brain and spinal cord.
baby losing the ability to turn over, sit, or crawl.
Other symptoms include Seizures, hearing loss, inability to move,
Tay sacs disease usually starts manifestation at the age of 6 months. And ends with death, usually before age of 6 years.
Baby displaying an abnormally strong response to sudden noises or other stimuli, known as the "startle response".
listlessness or muscle stiffness (hypertonia) also common.
The child may become blind, deaf, unable to swallow, atrophied, and paralytic. Death usually occurs before the age of four.
A rare form of this disease, known as Adult-Onset or Late-Onset Tay–Sachs disease.
first symptoms occur during the 30s or 40s.
In contrast to the other forms, late-onset Tay–Sachs disease is usually not fatal, as the effects can stop progressing. It is frequently misdiagnosed.
Symptoms of late-onset Tay–Sachs include: speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, schizophrenia-like psychosis. Symptoms may appear at early adulthood.
The cause of Tay–Sachs disease is genetic mutation on chromosome 15, and the disease inherits autosomal recessive manner.
The disease itself is rare, but in some particular populations its more common. For example, In Ashkenazi Jews, French Canadians of southeastern Quebec the disease is more common.
The disease was described by british ophthalmologist Waren Tay and American neurologist Bernard Sachs, that’s why it is called Tay-Sachs disease.
Diagnosis:
All patients with infantile onset Tay–Sachs disease have a "cherry red" macula in the retina, easily observable by a physician using an ophthalmoscope.
This red spot is a retinal area that appears red because of gangliosides storage in the surrounding retinal ganglion cells.
initial testing involves an enzyme assay to measure the activity of hexosaminidase in serum, fibroblasts, or leukocytes.
Prevention: Genetic testing during or before pregnancy is common form of prevention.
Also mate selection. In Orthodox Jewish circles, the organization Dor Yeshorim carries out an anonymous screening program so that carriers for Tay–Sachs and other genetic disorders can avoid marrying each other.
There is no treatment for tay sachs disease. Treatment is usually supportive.