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Most infants with Canavan disease appear normal for the first month of life
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∙ 13y ago
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How does gene therapy treat Canavan disease?
The goal of gene therapy is to restore normal amounts of aspartoacylase in the brain and nervous system and prevent the build-up of NAA and the symptoms of Canavan disease
What is the age group canavan disease affect?
Signs of Canavan disease normally become apparent around 6 months of age when an infant is not meeting normal milestones such as holding up his/her head. The lifespan for children with Canavan disease is generally 3-10 years if untreated, although some children have lived into their twenties.
What leads to Canavan disease?
It results when the body produces less than normal amounts of a protein called aspartoacylase
What is canavan disease?
Canavan deteriorates the white matter (myelin) in the brain. White matter is responsible for forming a protective coating around every nerve in the brain and spinal cord to ensure that nerve impulses are properly transmitted from one part of the body to another. Without myelin, the body cannot perform normal motor skills, can become increasingly stiff or floppy and suffers a multitude of symptoms including issues with swallowing, severe scoliosis and hip dislocations. Canavan Disease is a genetic disease, which means both parents must be carriers of the gene in order to have an affected child. If both parents are carriers, there is a 25% chance of a child having Canavan, a 50% chance of the child being a carrier, and a 25% chance of the child not having the Canavan gene at all.
Individuals heterozygous for sickle-cell anemia appear normal and are resistant to what disease?
malaria
How do infants with fragile X syndrome appear?
appear normal at birth but their development is delayed. Most boys with fragile X syndrome have mental impairment. The severity of mental impairment ranges from learning disabilities to severe mental retardation
What are the normal hemoglobin levels or amounts of iron for one week old infants?
Normal levels of hemoglobin for one week old infants are 15 - 20 g/dl.
What are the normal hemoglobin levels or amounts of iron for one month old infants?
Normal levels of hemoglobin for one month old infants are 11 - 15 g/dl.
When is ataxia-telangiectasia diagnosed?
Children affected with A-T appear normal at birth; however, the first signs of the disease--usually a lack of balance and slurred speech--often appear between one and two years of age.
Is ASCUS a disease?
ASCUS is not a disease; ASCUS is a pap smear result. It means that the cells on the cervix did not appear entirely normal, but they also did not appear to be precancerous cells. Depending on factors like age, history, and other test results, your health care provider will recommend a course of retesting or additional testing.
What causes Craniotabes?
premature infants(as normal finding),rickets,osteogenesis imperfecta
What is normal urinary output for infants?
40 ml per hour
