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<br /> Canavan disease is characterized by macrocephaly, lack of head control, and developmental delays by the age of three to five months, severe hypotonia, and failure to achieve independent sitting, ambulation, or speech. Hypotonia eventually changes to spasticity. Assistance with feeding becomes necessary. Life expectancy is usually into the teens. Canavan Disease can be found in people of all ethnicities. However, it has especially high prevalence among Ashkenazi Jewish people; the frequency of carriers is thought to be approximately 1 in every 40 within this population.
<br /> <br /> Canavan disease is a rare, but always fatal, inherited , degenerative brain disorders that primarily affects children of eastern and central European Jewish descent. This includes about 90 percent of the Jews in America. It is estimated that one in 40 Ashkenazi Jews is a carrier of the Canavan gene. Is most common in people of Ashkenazi Jewish ancestry, with a carrier incidence of 1 in 40. Canavan disease is a central nervous system disease that is usually fatal in childhood, with a few people surviving to adulthood. This disease is the result of a substance that destroys the central nervous system over time. There is presently no effective treatment for Canavan disease.<br /> <br /> Causes of Canavan disease<br /> <br /> Canavan disease belongs to a group of conditions known as leukodystrophies, which result from defects in myelin. Myelin, a substance made up of proteins and lipids, is an integral component of the nervous system. It is commonly known as the "wh
ite matter" in the brain; its function is to protect nerves and allow messages to be sent to and from the brain. In Canavan disease the white matter deteriorates because affected children have a deficiency of the enzyme aspartoacylase, which leads to the accumulation of a chemical, called N-acetyl-aspartic acid (NAA), in the brain.
<br /> A demyelination of nerve cells within the white matter of the brain (the area of the brain in which signals are sent to the other parts of brain and spinal cord). Myelin protects nerve cells, and without it, the proper messages are not able to be sent from the brain to the body. Babies with Canavan disease are missing an essential enzyme called aspartocyclase.<br /> <br /> Canavan disease is caused by the deficiency of an enzyme, called aspartoacylase. Without this necessary enzyme, a substance (called N-acetylaspartic acid) builds up and damages the brain, resulting in the features of Canavan disease.<br /> <br /> It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator.<br /> <br /> Symptoms of Canavan disease<br />
<br /> Typically, symptoms begin in the first year of life. Parents tend to notice when a child is not reaching particular developmental milestones, including lack of head control. The child will also have poor muscle tone. Eventually, the child can develop feeding problems, seizures, and loss of vision.<br /> <br /> The signs of Canavan disease usually appear when the children are between 3 and 6 months of age. They include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. As the disease progresses, convulsions (seizures), shrinkage of the nerve to the eye (optic atrophy) and often blondness, heartburn (gastrointestinal reflux) and deterioration of swallowing develop.<br /> </p><br><br><br><br><a href="http://iautoblog.com">iAutoblog</a> the premier <a href="http://iautoblog.com">autoblogger</a> software
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