Doctor insights on:
What Is Tay Sachs Disease Symptoms
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¶lysis may appear with abnormal eye exam.
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.
Symptoms of TAYSACHS: Children are noemal at birth and develop normally first six months than deterioration of mental and physical abilities start child develop blindness, deafness, unable to swallow, atrophic and becomes paralysed and death occurs before age of four.
See below.: Here is a website that can answer your questions about Tay Sachs Disease. Unfortunately, there is currently no treatment. Http://ntsad. Org/
No: Tay-sachs d. Inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The problems lies in enzyme gene mutation (hexa) located in lysosomes, no gm2 gangliosids break down.
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).
Depends on age: This is a rare genetic condition that has several different presentations. Infants who begin with symptoms early in life often do have a shortened lifespan. Adult onset is not considered as lethal. Http://ghr. Nlm. Nih. Gov/condition/tay-sachs-disease http://taysachsdisease16.blogspot. Com/2011/11/what-is-life-expectancy-of-someone-with. Html
No: They would never live long enough to do so.
See below: This is an autosomal recessive disease, meaning that both parents need to be carriers, and their children will have a 25% chance of the disease. The mutation is more prominent in certain populations, specifically the ashkenazi jewish population.
Misery: Affected patients appear normal at birth & progress normally up to about 6 mo when they plateau & start their decline. They gradually deteriorate & die of complications of their disease by the age of about 4 yrs.
See below: .."a baby with tay-sachs disease is born without an important enzyme, hexosaminidase a (hex a). So, as fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development." it is an inherited disease. Http://kidshealth. Org/parent/medical/genetic/tay_sachs. Html.
No: They look like anyone else.Get a more detailed answer ›
Not many: But when one is born, it's a serious disease that is painful and untreatable. Parents are usually jewish, and both parents carry the gene.
No.: Without molecular diagnostic methods, only the cherry red spot, provides a definitive diagnostic sign. They don't even have liver and spleen enlargement.
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