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Doctor insights on: How To Treat Canavan Disease Quickly

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How do pediatricians treat their own kids with canavan disease?

How do pediatricians treat their own kids with canavan disease?

Canavan disease: Regarding canavan disease: it is a genetic disease which is quite rare but seen mostly in ashkenazi jews. There is an over productin of n-acetylaspartic acid in the brain. A metabolic specialist ought to be consulted. However a full organic acid test should be run to help delineate possible adjunct treatments. I am betting most pediatricians would not feel comfortable treating it. ...Read more

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Dr. Douglas Hulstedt
22 doctors shared insights

Canavan Disease (Definition)

is a progressive, fatal neurological disorder that begins in infancy. It is caused by an inherited genetic abnormality: the lack of an essential enzyme causes deterioration of the white matter (myelin) in the brain, thereby preventing the proper ...Read more


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Who gets canavan disease?

Who gets canavan disease?

Testing: Canavan disease is a type of leukodystrophy which results in premature death of a baby usually by 4 years of life. It is "autosomal recessive" which means both parents have to be carriers. There are tests available for parents to check if they are carriers. Visit http://www.Canavan.Org/ for more information. Speak to your primary physician (ob or pediatrician) for more info. ...Read more

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What are the tests for canavan disease?

Testing: Canavan disease is a type of leukodystrophy which results in premature death of a baby usually by 4 years of life. It is "autosomal recessive" which means both parents have to be carriers. There are tests available for parents to check if they are carriers. Visit http://www.Canavan.Org/ for more information. Speak to your primary physician (ob or pediatrician) for more info. ...Read more

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When was the canavan disease discovered?

When was the canavan disease discovered?

Described in 1931: Myrtelle canavan published the early description of what is now called canavan disease in 1931. The citation is: canavan, m m; schindlers encephalitis periaxialis diffusa, arch neurol psychiat 25:229, 1931. ...Read more

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How does canavan disease affect the baby?

How does canavan disease affect the baby?

Short / poor quality: The lack of a specific enzyme in the brain allows the build up of byproducts of metabolism that interfere with vital functions and cause nerves to degenerate & loose function. Developmental progress begins to fade by 3-5mo, muscle weakness & spasms occur. Swallowing difficulties lead to tube feeding. Death in the first decade is expected. ...Read more

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What are the symptoms of canavan disease?

What are the symptoms of canavan disease?

Developmental delay: Infants with canavan disease show a lack of head control and developmental delays by 3-5mo. The head is relatively large, muscle control poor & muscle spasms & seizures may occur. ...Read more

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Describe the features of canavan disease.?

Describe the features of canavan disease.?

Canavan Disease: Canavan disease is a cerebral degenerative disease of infancy in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Symptoms appear in the first 3 to 6 months of life and progress rapidly--including lack of motor development, feeding difficulties, abnormal large, poorly controlled head. More at: http://www.Ninds.Nih.Gov/disorders/canavan/canavan.Htm. ...Read more

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When does the canavan disease get discovered?

When does the canavan disease get discovered?

Canavan: Genetic testing can identify the gene in parents prenatally to determine whether your child is at risk. If you and your partner are both carriers, the diagnosis can be made prenatally by an amniocentesis. ...Read more

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Wat effect does canavan disease have on your life?

Wat effect does canavan disease have on your life?

CANAVAN DISEASE: Genetic disorder among jews causing major malformations in the fetus. ...Read more

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What symptoms does someone with canavan disease have?

What symptoms does someone with canavan disease have?

Progressive delays.: Canavan disease, a genetic disorder caused by an enzyme deficiency in one kind of brain cell, is characterized by worsening developmental delays, worsening muscle tone, large head, and mental retardation. It is a devastating disease with degeneration of nerve tissue. ...Read more

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What is the definition or description of: Canavan disease?

What is the definition or description of: Canavan disease?

Canavan Disease: is a progressive, fatal neurological disorder that begins in infancy. It is caused by an inherited genetic abnormality: the lack of an essential enzyme causes deterioration of the white matter (myelin) in the brain, thereby preventing the proper transmission of nerve signals. ...Read more

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Interested to know how does canavan disease affect the individual?

Interested to know how does canavan disease affect the individual?

See link below: for up-to-date and accurate information from the NTSAD (National Tay Sachs and Allied Diseases Association): http://ntsad.org/index.php/the-diseases/canavan ...Read more

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What type of mutation is canavan disease?

What type of mutation is canavan disease?

Mutation of gene: More than 55 mutations in the aspa gene are known to cause canavan disease. Mutations in the aspa gene reduce or eliminate the activity of aspartoacylase, which interfers with maintaining the brain's white matter, which consists of nerve fibers covered by myelin. Nerve fibers without this protective covering malfunction and die, damaging the brain and causing canavan disease. ...Read more

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How was the canavan disease diagnosed in a baby?

How was the canavan disease diagnosed in a baby?

Testing: Canavan disease is a type of leukodystrophy which results in premature death of a baby usually by 4 years of life. It is "autosomal recessive" which means both parents have to be carriers. There are tests available for parents to check if they are carriers. Visit http://www.Canavan.Org/ for more information. Speak to your primary physician (ob or pediatrician) for more info. ...Read more

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Where can I find pictures online for canavan disease?

Where can I find pictures online for canavan disease?

Canavan disease: Google "canavan disease"; then click on "images" in the menu. There are images of patients as well as those of ct/mri findings. ...Read more

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What kind of gene mutation is canavan disease?

What kind of gene mutation is canavan disease?

Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more

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Can you tell me how can genetic engineering be used to prevent canavan disease?

Canavan: Genetic engineering can not prevent Canavan disease, but genetic testing can identify the gene in parents prenatally to determine whether your child is at risk. If you are a carrier, your partner should be tested and the results discussed with a genetic counsellor. ...Read more

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Is paget's disease treatable?

Is paget's disease treatable?

Yes: Paget's disease is very treatable. I have several paget's patients who do very well on yearly Reclast (zoledronic acid) infusions. ...Read more

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Is narcissism a disease, illness or mental flaw - and is it even treatable?

Is narcissism a disease, illness or mental flaw - and is it even treatable?

Can be all those: All of us need to have some healthy self-interest -- healthy narcissism -- to deal with life. But when this becomes greatly exaggerated, squeezing out the needs of others, we get into difficulty. There are narcissistic personality disorders which maybe 4-7% of our society has. These involve fixed patterns of relating with several criteria. Yes it is treatable - with great care and patience. ...Read more

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