Canavan disease
Canavan disease is an inherited illness that progressively damages nerve cells in the brain. This is an illustration of what can happen when the communication between the cells of tissues fail. This disease is usually caught during infancy, however; this condition is quite variable. Usually the infant with this disease appears normal for the first few months of life. During the third to fifth month of life infants begin having development problems including delayed motor skills, controlling their head movement, and sitting without support. This also causes infants to have weak muscle tone affecting their appearance. Such as abnormal posture, large head size, intellectual disability, and usually the child does not make eye contact. This disease causes many seizures and problems with eating and swallowing. In some cases the muscle control is so poor the head can not hold itself erect.
causes
This disease is caused by the disruption of the interaction of certain nerves in the brain and the neighboring neuroglial cells. This is a problem because the fatty substance that neuroglial cells make don't produce to where they make nerve impulse transmission fast enough for the brain to function. Without sufficient fatty substance, myelin, the neurons cease to function and symptoms begin.
common
The Canavan Disease, while it occurs in all ethnic backgrounds, is most common in eastern and central European Jewish heritage. In studies it suggests that one and 6,400 to 13,500 people in the Jewish population receive this disorder. In incidents in other populations is unknown.
Inheritance
This condition is received in an autosomal recessive pattern, which means both copies of the genes in each cell have mutations. Parents of a child with an autosomal recessive condition carry a copy of the mutated gene, typically they do not show signs or conditions.
cure
Canavan Disease has no conventional treatment. Experimental gene therapy has been known to deliver the healthy gene for aspartoacylase intaneurons, this enables them to secret their own enzyme. This is turn stimulates the neuroglial cells to make myelin. Although this gene therapy is invasive-delivered through holes bored into the skull-it must be repeated every few years, it appears to work. Just after three months of treatment, the first recipient, looks around, moved, and vocalized. Previously, she could barely open her eyes and participate in no interaction with others. This is the only known treatment to help Canavan Disease.