Canavan+Disease

= __**Symptoms**__ = **-Appear in early infancy** **-Progress rapidly** **-Mental Retardation** **-Loss of motor skills** **-Feeding Difficulties** **-Abnormal muscle tone** **-Abnormally large head** **-Paralysis** **-Blinding** **-Hearing Loss**

= __**Causes**__ = **-Canavan Disease is a genetic disorder, it is also known as Leukodystrophies. This disease tends to affect the growth of the Myelin sheath. The Myelin sheath is a fat covering, it is basically an insulator that goes around the nerve fibers of the brain. Myelin gives of its color to the brain, it is made up of about ten different chemicals. Only one of those substances ends up being affected. This disease occurs due to mutations in the genes, it is known as aspartoacylase. Aspartoacylase is a hydrolase enzyme, it breaks down N-acetylaspartate. It occurs in mutations in the genes ASPA. This gene gives instructions in order to make the enzyme aspartoacylase. Mutations in this gene prevents the breakdown of NAA, if NAA isn't broken down correctly then the result will be a chemical imbalance that could damage the formation of the Myelin. Also, if NAA builds up that could eventually lead to the destruction of exisitng Myelin around the nerve cells. Since the nerve fibers aren't protected this could lead to the brain being damaged. Soon Canavan Disease symptons will begin to appear.** = = = **__How is this Disease Inherited?__** =
 * -Canavan Disease is inherited through autosomal recessive patterns. This means that both copies of the gene in each cell have undergone mutations. People who have inherited this disease usually have parents that carry one copy of the mutated gene, this is an autosomal recessive conditions. **

= __**Epidemiology**__ = **-Canavan Disease is inherited by many people from all around the world, but it is mostly inherited by Eastern European Jewish. Studies show that about 1/40 of Eastern European Jewish ancestors are carriers.**

= **__Diagnosis__** = **-Canavan Disease can be detected at a very young age, it can be found in blood or a DNA test.**

= **__Prognosis__** = **-Learning Disability** **-Short Stature** **-Leukodystrophy** **-Visual Impairment** **-Intrauterine growth retardation** **-Megencephaly** **-Spastic Ataxia** **-Death by age 10** = = = **__Treatment__** =

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 * -Greenburg v. Miami Childrens Hospital Institute was a lawsuit that was started because a Doctor decided to take away the free testing offered to families to test if they had this harmful gene. Soon this obligated the Canavan Foundation to take away free testing. Then the Canavan Foundation brought this lawsuit against Miami Childrens Hospital but later on settled out of it. **=====

** -Jacobs Organization is a nonprofit organization founded by Jordana Holovach, she wanted to save her son Jacob. He was diagnosed with Canavan Disease at six months. **






= __**Sources**__ = [] [] []