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Tay-Sachs disease is caused by total hexosaminidase A (Hex A) deficiency and it's an autosomal recessive disorder.
Macrocephaly, loss of motor skills, macular cherry red spot and increased startle reaction are some features of the infantile form, a fatal neurodegenerative disease.
Ataxia and dementia are features of the juvenile-onset with death by age 10-15 years.
The adult-onset consists of clumsiness in childhood, progressive motor weakness in adolescence and spinocerebellar, lower motor neuron symptoms and dysarthria in adulthood. Psychosis is common and intelligence declines slowly.
Screening for Tay-Sachs disease carriers is recommended in the Ashkenazi Jewish population.
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