Krabbes Disease


Description:
Krabbes disease is a very rare and affects the nervous system this is when the cell has more than one nucleus. It also does destruction of the brain cells. Krabbes mostly affects infants and could kill the child within 2-8 years but it could also happen with in adulthood. The disease is in a rare group called leukodytrophies. Diseases of this group usually mess with the growth of a child or adult.
Inheritance: This disease is inherited by an autosomal recessive pattern, which means both genes in each cell have mutation. The parents of an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the conditions. Mutation GALC causes Krabbes located in chromosome 14

Symptoms:
  • Fever
  • Unexplained crying
  • Trouble feeding
  • Muscle stiffness
  • Loss of muscle tone
  • Weight loss
  • Vomiting
  • Blindness
  • Deafness
  • Breathing difficulties
  • Mental incapability


Daily Life:

Diagnosis: The disease may be diagnosed by its characteristic grouping of certain cells multinucleated globoid cells, and destruction of brain cells. Special stains for myelin may be used to aid diagnosis.

Treatment:
There is no cure for krabbes but there is a medicine that helps with the symptoms or maybe even stops some of them. A study in New England has showed that krabbes can be stopped by a cord blood transplant as long as they are given before overt symptoms appear.

Research:
Although there is no cure for Krabbes disease, bone marrow transplantation has been shown to benefit cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

Additional Facts:
In infants, the disease is generally fatal before age 2. Patients with late onset Krabbes disease tend to have a slower progression of the disease and live significantly longer. Any child conceived by carrier parents has a 1 in 4 chance of being affected, a 1in 4 chance of being a non-carrier, and a 2 in 4 chance of being a carrier. Being a carrier does not affect the child's functioning and can only be detected through genetic testing of the DNA code.

Punnett Square:pedigree.PNG
Pedigree Chart:
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Resources:
http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm
http://ghr.nlm.nih.gov/condition/krabbe-disease
http://emedicine.medscape.com/article/951722-overview
http://www.mayoclinic.com/health/krabbe-disease/DS00937
http://www.medicinenet.com/script/main/art.asp?articlekey=54315