Hello fellow classmates! Today we'll be talking about Andersen's Disease and how doctors diagnose Andersen's disease.
Clinical evaluations are done either during infancy or childhood (and occasionally, adulthood). Family history is looked at to see if parents are carriers of the disease as it is a recessive disease (implying it requires 2 copies of the recessive allele for a person to be affected).
Biopsies are taken for examination which may show signs of abnormally structured glycogen or amylopectin-like deposits. Sample can be taken from muscle, liver tissue and even skin cells or blood cells for an indirect enzyme assay.
Counting of blood cells, testing of liver functions and glucose level in blood may be done to aid in detection of symptoms that are associated with the disease. Such test can also be done prenatally by taking biopsy of the chorionic villi or via amniocentesis where the amniotic fluid is used.
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| Diagrams showing how the prenatal test are administered. |
Sources:
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/394/viewFullReport
http://www.babycenter.com/0_amniocentesis_327.bc#articlesection1
http://www.mamasonbedrest.com/wp-content/uploads/2010/02/amnioandCVS.jpg
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