Top
10
Doctor insights on: Over The Counter Treatment For Canavan Disease

Share
1

1
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

Dr. Douglas Hulstedt
22 doctors shared insights

Canavan Disease (Definition)

Canavan disease is an inherited childhood condition where the inability to breakdown a chemical in the brain leads to its accumulation resulting in mental ...Read more


2

2
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

3

3
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

See 1 more doctor answer
4

4
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

See 1 more doctor answer
5

5
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

6

6
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

7

7
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

8

8
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

9

9
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

10

10
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