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Canavan disease (Mercedes)

Page history last edited by Mercedes R 8 years, 4 months ago


What is Canavan Disease? 


Canavan diseasecan cause progressive damage to nerve cells in the brain.


Canavan disease is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations.

The parents of a child with an autosomal recessive condition each carry one copy of the mutated gene, but they usually don't show signs and symptoms of the condition.







Canavan Disease was first described in 1931 by Mytrelle Canavan.


A family had agreed to test their two children who has Canavan Disease in 1993, and the Miami Children's Hospital began offering free testing on couples who had potential risk of spreading Canavan Disease to their children, but an employer at the Miami Children's Hospital patented the gene Canavan Disease was caused by and started collecting royalties for the genetic testing, which forced the Canavan Foundation to end their testing.  


Studies show that Canavan Disease is most common in Ashkenazi Jewish population (Eastern to central Europe), because they most commonly carry the gene. The studies suggest that 1 in 6,400 to 13,500 are affected in the Ashkenazi Jewish heritage, but in other populations it is unknown because it occurs the most in this area. 



http://flipper.diff.org/app/items/info/4790Other Names For Canavan Disease:


ACY2 deficiency

Aminoacylase 2 deficiency

Aspa deficiency

Aspartoacylase deficiency

Asp deficiency

Canavan-Van Bogaert-Bertrand disease

Leukodystrophy, spongiform

Spongy degeneration of central nervous system

Spongy degeneration of the brain

Spongy degeneration of white matter in infancy

Van Bogaert-Bertrand syndrome

Von Bogaert-Bertrand disease



This disorder does not have a cure, or a set course of effective treatment yet. 

A treatment went through a trial but after a two week withdrawal of lithium citrate (which was used in the trial to lower their N-acetyl level) the patient had not recovered. 

So when a child is effected with Canavan Disease they must live with the disorder and any symptoms it causes. 



What Are Genetic Disorders? 

A genetic disorder is caused by abnormal genes or chromosomes. A disorder may or may not be genetically inherited, which means the disorder can be passed on by parents genes which my have an abnormality or it may just be a rare occurrence with no relation to parents or family members and may just be new abnormal or mutated genes in the DNA. 

A disorder can occur in any individual, if they have a abnormal or mutated gene, but they can also be a carrier of the gene but not be effected.





There are six main types of genetic disorders: 

Autosomal Dominant-Only one gene has have a abnormality for the carrier to be effected by the disorder. 

Autosomal Recessive-Two copies of the gene have to have a abnormality for an individual to be affected by the disorder. 

X-linked Dominant-Abnormalities are cause by abnormalities in the X chromosomes. 

X-linked Recessive-Also are caused by abnormalities in the X chromosomes, but off spring who are affected varies from gender. (If a father has an X linked recessive disorder, his sons will not be effected, but his daughters will carry the abnormal gene.)

Y-linked-Caused by abnormalities in the Y chromosomes. Males inherit their Y chromosomes from their father, so any father who had an affected Y chromosome and has a disorder, their son(s) will also be affected. 

Mitochondrial- This can also be known as Maternal Inheritance. A disorder of this type is caused by abnormalities in the Motichondrial DNA, only egg cells contribute mitochondria to a developing embryo so only mothers can pass it down to their children. 


All genetic disorders have different causes, and have very different symptoms. They all also vary from who they effect in families, some may carry the gene from their parents and will not be affected, but some carry it and are affected by it, but some may develop or are born with an abnormal gene without any family history and are affected by the disorder. 


Gene Therapy 

Gene therapy is used to treat DNA affected by a disease. The most common form of gene therapy is inserting a functional gene into a host genome. It was first thought of in 1972, and since then over 1,700 trials have been conducted using various types of technologies for gene therapy. 

Gene Therapy has been tested on people with Canavan Disease, but there is still no affective treatment to this day. 






This video shows a boy who was diagnosed with Canavan Disease at the age of 6 months, but had found treatment which cured most of his symptoms. it also discusses how doctors are using their new technology and discovering new things about Canavan Disease which they did not know, and which may be helpful in developing a solid cure for the disorder. 



Hospitals have many new technological research and developments so they are able to help children and diagnose them early in their life. Many new tests and procedures are taking place to give children the help they need to benefit their life. There is still no set cure or treatment used. But hospitals are using their research and previous test procedures to better the lives of children affected by Canavan Disease. 



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