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Doctor insights on: Genetic Brain Disorders Tay Sachs Disease

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What type of genetic disorders are tay sachs disease and canavans examples of?

What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population.Seek genetic counsiling. ...Read more

Dr. Maulik Shah
26 doctors shared insights

Genetic Brain Disorders (Definition)

Genetic brain disorder is a condition in which a person has a problem in the brain, related to a defect or mutation in his genes (DNA). Some conditions have symptoms in infancy, some appear gradually as a child grows, while other conditions show up in adulthood. These disorders include problems forming nerve cell connections, problems handling nutrients such as amino acids, problems getting waste material out ...Read more


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How can having tay-sachs disease affect people's life?

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. ...Read more

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Is it uncommon for tay sachs disease to start to manifest later in life?

Is it uncommon for tay sachs disease to start to manifest later in life?

Very Rare: Tay sachs is a metabolic defect that begins to cause problems immediately after birth. Neurologic abnormalities are identified during the first year of life and these children all die in the first years of life. There may be another neurologic disorder that has some of the clinical features of tay sachs that shows up later. ...Read more

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Can you tell me are people with tay-sachs disease sterile?

Can you tell me are people with tay-sachs disease sterile?

Confusing question: These affected patients never live long enough to become fertile.The gene survives because it passes quietly in the unaffected carriers.Ts only emerges when 2 carrier parents give birth to an effected infant. ...Read more

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What are the symptoms of tay sachs disease? What are complications with treatment?

See below.: Here is a website that can answer your questions about Tay Sachs Disease. Unfortunately, there is currently no treatment. http://ntsad.org/ ...Read more

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Can a child get tay-sachs disease from parents that don't have the disease?

That's how it happns: Tay-sachs is a genetic disorder that requires two defective genes for expression.During conception, one gene is passed from two unaffected carrier parents & baby develops the disease from having two faulty genes in each cell.Affected patients do not survive to pass it on. ...Read more

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Two prospective parents learn that they each carry on allele for tay-sachs disease, do they also suffer from the disease?

Protective gene: The carrier state exists & thrives because the unaffected allele is able to provide a protective level of the enzyme needed to avoid symptoms.By providing a basic level of enzyme production, the body can go about its normal metabolic activities without the buildup of toxic materials that cause the disease state. ...Read more

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How long can you live with Tay-Sachs disease?

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 ...Read more

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Which chromosome does tay-sachs disease change?

Which chromosome does tay-sachs disease change?

15: Tay sachs is an autosomal recessive disorder affecting chromosome 15 in the "hexa" gene. ...Read more

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What type of mutation is responsible for tay-sachs disease?

What type of mutation is responsible for tay-sachs disease?

Autosomal recessive: The medical term for this type of inheritance is autosomal recessive. Both parents must possess the recessive gene which is combined in the baby (receives two copies) and produces expression of the disorder. ...Read more

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What is the life expectancy of someone with tay sachs disease?

Tay Sachs: Tay Sachs disease is an autosomal recessive, neurodegenerative disease cause by excessive storage of Gm2 ganglioside withinn cell lysomes. Normal motor function first few months of life following by progressive weakness, starting at 2 to 6 months of age. Life expectancy is 2 to 5 years. Consult genetic expert. ...Read more

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Is tay-sachs disease a result of nondisjunction during meiosis?

Is tay-sachs disease a result of nondisjunction during meiosis?

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. ...Read more

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What sort of a bioethical decision could parents make if their child has tay sachs disease?

What sort of a bioethical decision could parents make if their child has tay sachs disease?

See below: No physician is going to make any decision for you or your family. You need to know the disease you are dealing with, and the probable outcomes that you will face. The decision that you make will be made by you and your family. Your physicians will help in anyway they can, but it is your decision. I am sorry you are going through this and wish there was something else i could say to help you. ...Read more

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How common is tay sachs disease?

Very rare: very rare in general population, highest risk among Ashkenazi Jewish families ...Read more

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What are some symptoms of tay-sachs disease?

What are some symptoms of tay-sachs disease?

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. ...Read more

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What are some statistics for tay-sachs disease risk?

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. ...Read more

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What is the definition or description of: tay sachs disease?

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. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more