Kanavan's disease
Contents:
- Description
- Kanavan etiologies
- Symptoms of a disease of Kanavan
- Treatment of a disease of Kanavan
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Description:
Kanavan's disease - the hereditary disease which is characterized by the progressing defeat of nervous cells of a brain. This disease belongs to group of genetically caused leukodystrophy. At a leukodystrophy there is a destruction of a myelin cover of nerve fibrils. Most often Kanavan's disease occurs at Ashkenazi's Jews.
The pioneer of a disease consider the American female neuropathologist Mirtel Mai Keneven.
Kanavan etiologies:
The lack of enzymes (catalysts) is an etiology. Such insufficiency of enzymes leads to the increased allocation with mochy N-acetyl-aspartic acid.
The risk of the birth of the child with a disease Kanavan among Jews makes about 1:6400.
Symptoms of a disease of Kanavan:
Symptoms of this disease usually appear at children from 3 to 6 months. They include: an arrest of development of the child (considerable slowness at the movement), increase in the head (macrocephalia), loss of a tone of muscles (hypotonia), serious problems with feeding of the child.
In process of progressing of a disease there are convulsions (attacks), damage of nerves of eyes (an optical atrophy) that often is the reason of a blindness, heartburn (a gastroesophageal reflux), difficulties when swallowing.
Most of children with Kanavan's disease die, without having reached 10 years.
Treatment of a disease of Kanavan:
Now, there is no effective treatment of this disease. It is deadly.