Description:




Inheritance:
Krabbes Disease is inherited in an autosomal recessive pattern which means witch means that a child receives a defected copy from both parents. Krabbes disease causes a genetic defect in an enzyme called galoctorerebrosidese/GALC. Enzyme is essential for the maintenance of myelin a fatty substance that insulates your nerve fibers.

Symptoms:
Changing muscle tone floppy,
Rigid,
Hearing loss,
Failure to thrive,
Feeding difficulties,
Irritability and sensitive,
Sounds,
Severe seizures,
Unexplained,
Vinson loss,
Vomiting.

Daily Life:
They last about 2 years. They have to be in a wheel chair. There life stinks they can’t do any thing. They also lose every thing hearing vision and more.

Diagnosis:
The doctor will conduct a physical exam of your child.
Blood test,
Obtain skin sample,
Measure activity of the galc enzyme.


Treatment:
There is no cure but if you keep your baby’s umbilical cord you could help the baby by using that. Also they use other people bone marrow and they replace it with the infected one. Also therapy likes talks about life and they play with toys and make them happy.


Research:
Treatments are bone marrow transplants replace a child bon marrow in Krabbes Disease.

Umbilici cord transfusion of blood stem cells obtained from the umbilical cord of the unrelated donors.
Preventions-- you could do pregnancy screening new born baby and new born screening.


Additional Facts:
1 out of 100,000 people get this disease.
Krabbes Disease is also call leukodystrophy.
This disease most often happens to infants.



Punnett Square:
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Pedigree Chart:
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Resources:
//www.mayoclinic.com/health/DiseasesIndex/DiseasesIndex
http://www.nih.gov/
http://www.cnn.com/HEALTH/






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