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Genetic Disorter

Jorge Cardozo

on 11 December 2012

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Transcript of Leukodystrophy

The word Leukodystrophy comes from the greek roots...
-Dys(Lack of)

Which leukodystrophy describes a set of diseases that affect the growth or maintenance of the white matter. How do people receive the disorder? How can it be treated? How can it be detected? How can it be diagnosed? The diagnosis of a specific leukodystrophy is often not easy. Frequently, it will involve the input of a number of specialists, including neurologists, geneticists and metabolic physicians. In around half the cases, a named diagnosis may not be possible.

Depending on the type of leukodystrophy, diagnostic methods can include:
-Physical examination - Nerve conduction tests
-Blood tests -Neurocognitive tests
-Urine tests -Genetic tests
-MRI scans -Nerve biopsy Jorge Cardozo 6th period Leukodustrophy What is Leukodystrophy?Who discovered it? The first report of Leukodystrophy was in 1933 from Dr. Joseph Godwin Greenfield, a professor of pathology and clinical medicine.The leukodystrophy is rare diseases that affects the cells of the brain which affects the myelin sheath(the material that surrounds and protects nerve cells). Damage to the myelin slows down or blocks messages between the brain and the rest of the body. This leads to problems with

-Movement -Abnormal eye movements
-Speaking -Change in walking pattern
-Vision - Ability to speak
-Hearing -Change in behavior
-Mental and physical development In other to create this disorder both males and females have to carry the gene and both parents need to carry the defective gene to have an affected child. They usually appear during infancy or childhood.Medicines, speech therapy, and physical therapy might help with symptoms, but there are no cures for any of the leukodystrophies.They can be hard to detect early because children seem healthy at first. It looks like she's/he's normal(like doctors said, its hard to detect this problem when they are infants) but they're not. Pictures of how Leukodystrophy look like.
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