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Canavan disease is a degenerative cerebral disorder that is characterized by increasing damage to the brain and the nerve fibers. The condition is also known as aspartoacylase deficiency, or aminoacylase 2 deficiency, or Canavan-Van Bogaert Bertrand disease
Canavan disease is one of the commonest degenerative cerebral disorders that occur in childhood. It is a part of a group of inherited diseases called the leukodystrophies.
The illness is named after Myrtelle Canavan, the experts who first described the disorder in 1931.
An Overview of Canavan Disease
Canavan Disease is quite prevalent among semitic cultures; such as, Saudi Arabians and Ashkenazi Jews. When both the parents have the faulty gene, the child has a 25 % chance of being afflicted by the disease.
Disease frequency that has been demonstrated is one in 5,000 Ashkenazi Jews; while, the carrier frequency seen is one in thirty eight Ashkenazi Jews.
What Are The Symptoms and Clinical Features Of Canavan Disease?
Canavan disease symptoms that are commonly seen are:
Mental impairment
Difficulties in feeding
Poor muscle tone, i.e., droopiness / limpness, or extreme stiffness and rigidity
Megalocephaly or a big head
Seizures
Blindness, loss of hearing and paralysis occur over a period of time
In general, the children are very quiet, lacking energy, sluggish and indifferent.
Invariably, the child dies before 4 years of age, if treatment isnt administered. Some children live up to their 20s if newer gene therapy treatments are administered which have demonstrated extended their life expectancy.
How Do You Diagnose Canavan Disease?
Canavan disease is diagnosed by identifying the deficiency of the enzyme aspartoacylase in skin cells or by testing the gene for Canavan disease in the blood.
DNA testing tells you whether you are a carrier of the Canavan Disease.
How is Canavan Disease Caused?
Canavan disease causes defective development of the myelin sheath that covers the nerve fibers.
The primary cause for the disorder is a defective / malfunctioning ASPA gene. The ASPA gene is in charge for the synthesis of enzyme aspartoacyclase. Aspartoacyclase decomposes the brain molecule N acetyl aspartate. Thus, impaired functioning of the aspartoacylase does not allow normal decomposition of N-acetyl aspartate, and as a result, a lack of break-down hampers the normal synthesis and the development of myelin.
Treatment for Canavan Disease
As yet, there isnt any cure for Canavan disease; however, the following help manage the case better:
In general, the treatment for Canavan disease is supportive and depends on symptom management.
Nevertheless, investigational therapy using lithium citrate is done. Generally, high levels of N-acetyl aspartate are seen in patients of Canavan disease; and lithium citrate, used in a rat model of Canavan Disease showed that levels of N-acetyl aspartate were greatly decreased. A larger clinical study and research of lithium is essential to manage children diagnosed with Canavan disease.
Moreover, there are investigational clinical studies of gene therapy too.
Convulsions and seizures are handled suitably using anti-convulsants.
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