Canavan Disease Symptoms
Published on Feb 23 2010, in the categories: Canavan, symptoms
The Canavan disease primarily affects children of Eastern and Central Europe Hebrew (Ashkenazi) and is an inherited neurological disorder that deteriorates the brain. The Canavan disease is caused by a deficiency of an enzyme called aspartoacilaza (ASPA).
This deficiency leads to an increased level of N-acetilaspartic (NAA) in the brain. NAA causes a chemical imbalance that destroys myelin. Myelin, known as "the white substance” in the brain protects nerves and allows you to send messages to and from the brain. If the chemical imbalance of "white substance" foam is unable to send messages, it causes Canavan disease symptoms.
Signs of Canavan disease usually appear when children are between 3 and 6 months. These include delay in development (motor slowness), the extension of the head, and loss of muscle tone, poor head control, and severe feeding problems. As the disease evolves, the Canavan disease symptoms consist of seizures, blindness, nerve damage and often eye damage, heartburn (gastrointestinal reflux) and dysphasia. Most children with Canavan disease die in the first decade of their life.
Canavan Disease is a genetic disease, an inborn neurological malformation in which the white material of the brain tissue degenerates, leading to spongiform. There is no antidote or a standard course of medical treatment. Canavan disease symptoms (occurring at an early age) include mental retardation and loss of motor skills. Death occurs at ages between 4 and 20 years. Canavan disease is one of the most common degenerative brain disease that appears in early ages. In the Ashkenazi Jewish ethnic group, about 2% of members are carriers of this hereditary disease. Of course, Canavan syndrome occurs also in other ethnic groups.
Ashkenazi Hebrew people in the group, more and more couples require genetic testing before marriage: if none or only one of the prospective parents is carrier of a gene mutation, there was a 25% chance for each pregnancy that the future child to have Canavan disease.
For this reason, DelphiTest GmbH Germany developed a new genetic test based on analysis of oral fluid samples. Customers can easily and without pain take the samples in their home. The samples are then forwarded to the laboratory in Regensburg where the gene coding region will be analyzed. The full analysis costs 400 EUR, - for each member of the couple, as described by Dr. Frank Pfannenschmid.
The Canavan disease is an autosomal recessive disorder: if the child contracted the disease, both parents must be the bearers of defect genes. The Canavan disease is a genetic disease, an inborn neurological malformation in which the white matter of brain tissue to degenerate transforming spongiform. There is no antidote or a standard course for medical treatment. From what we know, there are only two laboratories in the world that offers genetic testing for Canavan disease. These labs require their clients' blood samples to be transported very carefully, requiring high costs.
The genetic test enables the customers to check whether their genes provide increased certainty. Genetic counseling is very important in helping couples who present risks in exploring their family planning options. In America, many rabbis advise young couples to perform the Canavan test. The Canavan disease can be identified by a simple prenatal blood test that determines the absence of ASPA enzyme or mutations in the genes. A second method is measuring the NAA levels in the amniotic fluid, determining the exact NAA levels in amniotic fluid.
This deficiency leads to an increased level of N-acetilaspartic (NAA) in the brain. NAA causes a chemical imbalance that destroys myelin. Myelin, known as "the white substance” in the brain protects nerves and allows you to send messages to and from the brain. If the chemical imbalance of "white substance" foam is unable to send messages, it causes Canavan disease symptoms.
Signs of Canavan disease usually appear when children are between 3 and 6 months. These include delay in development (motor slowness), the extension of the head, and loss of muscle tone, poor head control, and severe feeding problems. As the disease evolves, the Canavan disease symptoms consist of seizures, blindness, nerve damage and often eye damage, heartburn (gastrointestinal reflux) and dysphasia. Most children with Canavan disease die in the first decade of their life.
Canavan Disease is a genetic disease, an inborn neurological malformation in which the white material of the brain tissue degenerates, leading to spongiform. There is no antidote or a standard course of medical treatment. Canavan disease symptoms (occurring at an early age) include mental retardation and loss of motor skills. Death occurs at ages between 4 and 20 years. Canavan disease is one of the most common degenerative brain disease that appears in early ages. In the Ashkenazi Jewish ethnic group, about 2% of members are carriers of this hereditary disease. Of course, Canavan syndrome occurs also in other ethnic groups.
Ashkenazi Hebrew people in the group, more and more couples require genetic testing before marriage: if none or only one of the prospective parents is carrier of a gene mutation, there was a 25% chance for each pregnancy that the future child to have Canavan disease.
For this reason, DelphiTest GmbH Germany developed a new genetic test based on analysis of oral fluid samples. Customers can easily and without pain take the samples in their home. The samples are then forwarded to the laboratory in Regensburg where the gene coding region will be analyzed. The full analysis costs 400 EUR, - for each member of the couple, as described by Dr. Frank Pfannenschmid.
The Canavan disease is an autosomal recessive disorder: if the child contracted the disease, both parents must be the bearers of defect genes. The Canavan disease is a genetic disease, an inborn neurological malformation in which the white matter of brain tissue to degenerate transforming spongiform. There is no antidote or a standard course for medical treatment. From what we know, there are only two laboratories in the world that offers genetic testing for Canavan disease. These labs require their clients' blood samples to be transported very carefully, requiring high costs.
The genetic test enables the customers to check whether their genes provide increased certainty. Genetic counseling is very important in helping couples who present risks in exploring their family planning options. In America, many rabbis advise young couples to perform the Canavan test. The Canavan disease can be identified by a simple prenatal blood test that determines the absence of ASPA enzyme or mutations in the genes. A second method is measuring the NAA levels in the amniotic fluid, determining the exact NAA levels in amniotic fluid.
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