Friday, April 19, 2013

Genetic disorders: Canavan disease

It has been a while since I last posted,I have been enjoying a two week vacation but now I am back on schedule once again!

For my science I am learning about genetic disorders, one I am specifically working on is called Canavan disease. Genetic disorders like Canavan disease appear when one of the twenty-three pairs of chromosomes in your cells are damaged and or mutated in some form.

Canavan disease is an inherited genetic disease that causes progressive damage to the brain's nerve cells. Canavan disease is grouped with other genetic diseases called leukodystrophies. Leukodystrophies are known for their aggression toward myelin, which is the fatty covering that insulates the brain's nerve cells. 

Nerve cell
Symptoms of Canavan disease begin in early infancy, although the symptoms do not begin until about three to five months of age. Symptoms include:

  • Developmental problems for motor skills such as rolling over, being able to sit up without support, and being able to control  head movement
  • Unusually large head growth
  • Weak muscle tone
  • Intellectual difficulties 
  • Abnormal posture
  • Sleep disturbances
  • Feeding and swallowing difficulties
  • Child afflicted with Canavan disease
  • Seizures 
Most afflicted infants do not get to live farther than childhood, but some end up living to adolescence and beyond.
                
So far, there is no known cure for genetic diseases such as Canavan disease,but in the future scientists hope to be able to directly repair, or even replace damaged chromosomes.