Any symptoms of tay-sachs disease?

Several forms exists. Infantile form: child appear normal until the age of 3-6 mo, when their development slows & muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, seizures, vision&hearing loss, intellectual disabilities&paralysis may appear with abnormal eye exam.

Related Questions

What are symptoms of tay-sachs disease?

TAY-SACHS D. Missing developmental milestone after age 6 months, develop progressive cognitive and motor deterioration with seizures, mental retardation, paralysis and death in early age. Read more...

What are the symptoms of tay-sachs disease?

Detrioration. An autosomal recessive genetic disorder. In its most common variant (known as infantile tay–sachs disease), it causes a progressive deterioration of mental and physical abilities that commences around six months of age. There is regression of development. Patients become deaf and blind and have a shortened life. It is quite sad. Read more...

Tay-sachs disease is only injews, right?

Genetic disease. Tay-sachs is a horrible but rare genetic disease caused by an autosomal recessive mutation (abnormal gene) -- this means that both parents have to be carriers of the gene for a baby to inherit the disease. The tay-sachs gene is famous for being found in ashkenazic jews, but is also more common among french canadians and cajuns. Altho rare, anyone can carry the gene (approx 1/300 in north america). Read more...

What are the causes of tay-sachs disease?

Birth defect. Tay sachs disease is caused by a chromosomal abnormality and would be because both parents passed the gene (autosomal recessive) and is seen in 1:3000 babies seen in ashkenazi jewish population. Read more...
Gene defect. This condition arises when 2 asymptomatic carrier parents have a child that inherits a defective gene from both. Carrier parents have a gene pair,one good, that is enough to keep their metabolism working. When 2 bad genes are found in the cells, the code for making an enzyme, Hexosaminadase A is lost, and material it is supposed to break down builds up in cells choking off normal function. Read more...