Tay-Sachs Disease
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Tay-Sachs Disease is a devastating lysosomal storage disorder caused by deficiency of the enzyme hexosaminidase A (Hex-A). Without this enzyme, a fatty substance called GM2 ganglioside accumulates in neurons, progressively destroying the brain and spinal cord. It was named after British ophthalmologist Warren Tay and American neurologist Bernard Sachs, who independently described the condition in the 1880s.
The classic infantile form is the most common and severe. Babies appear normal at birth but begin showing symptoms around 3-6 months of age, including an exaggerated startle response, loss of motor skills, and progressive weakness. An ophthalmologist can see a characteristic "cherry-red spot" in the retina. By age 2, most children experience seizures, progressive loss of vision and hearing, and intellectual decline. The disease is uniformly fatal, with most children dying by age 4-5.
Rarer forms exist with later onset. Juvenile Tay-Sachs begins between ages 2-10 and progresses more slowly. Late-onset Tay-Sachs (LOTS) can appear from adolescence to adulthood with symptoms including muscle weakness, speech difficulties, psychiatric problems, and cognitive decline. These later-onset forms have some residual Hex-A enzyme activity, explaining the milder presentation.
Tay-Sachs disease is caused by mutations in the HEXA gene and is inherited in an autosomal recessive pattern. It is notably more common in certain populations, including Ashkenazi Jews, French Canadians of Quebec, and the Cajun population of Louisiana, where carrier rates are approximately 1 in 30 (compared to 1 in 300 in the general population). Carrier screening programs have dramatically reduced the incidence in high-risk populations.
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