Question 1

who gets canavan disease?

Accepted Answer

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.

Question 2

when was the canavan disease discovered?

Accepted Answer

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.

Question 3

what are the symptoms of canavan disease?

Accepted Answer

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.

Question 4

how does canavan disease affect the baby?

Accepted Answer

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.

Question 5

describe the features of canavan disease.?

Accepted Answer

Very serious: Symptoms of canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.No known cure at this time. Avery serious problem.

Question 6

when does the canavan disease get discovered?

Accepted Answer

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.

Question 7

what symptoms does someone with canavan disease have?

Accepted Answer

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.

Question 8

what is the definition or description of: canavan disease?

Accepted Answer

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.

Question 9

what type of mutation is canavan disease?

Accepted Answer

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.

Question 10

how was the canavan disease diagnosed in a baby?

Accepted Answer

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.

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What type of mutation is canavan disease?

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How was the canavan disease diagnosed in a baby?

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