Canavan Disease is a progressive deadly gene linked neurological disorder. In 1931, Dr. Myrtelle Canavan, who was a physician and medical researcher, first described the syndrome. Dr. Rueben Matalon discovered the defect and duplicated the gene for the Canavan Disease. The disease starts in infancy, and at birth, most children with the disease appear ordinary. Within the first few months of life, children exhibit advanced physical and mental capabilities. A genetic mutation on chromosome seventeen causes a shortage of an enzyme aspartoacylase (ASPA) gene; this is an inherited autosomal recessive trait. That is, a child must inherit one copy of the mutated gene from each parent to develop the disease.
Aspartoacylase serves as a metabolic component that breakdowns the brain element known as N-acetyl-aspartate (NAA). When NAA is not broken down properly, it causes a decline of the white substance (myelin) in the brain. Myelin is the fatty layer that acts as padding around the brain nerve fibers and provides nutrition for the nerve cells. When the body stops producing the ASPA enzyme, there is a buildup of NAA that terminates the presence of myelin and damages the brain cells.
The indicators of the Canavan Disease typically appear in the first 3 to 9 months of life and develop swiftly. Many children do not live past …show more content…
Treatment involves managing the symptoms. Physical, occupational, and speech therapy could assist a child reach his or her developmental potential. A medication called anticonvulsants may help reduce the frequency and severity of seizures. Genetic testing may be performed to determine if a parent carries the mutated gene. When each parent is discovered to be a carrier of the Canavan gene mutation, there is a 25% chance with each pregnancy that the child will be affected with the disease. Although carriers do not have the disease, they can pass a copy of their mutated gene onto each of their
Aspartoacylase serves as a metabolic component that breakdowns the brain element known as N-acetyl-aspartate (NAA). When NAA is not broken down properly, it causes a decline of the white substance (myelin) in the brain. Myelin is the fatty layer that acts as padding around the brain nerve fibers and provides nutrition for the nerve cells. When the body stops producing the ASPA enzyme, there is a buildup of NAA that terminates the presence of myelin and damages the brain cells.
The indicators of the Canavan Disease typically appear in the first 3 to 9 months of life and develop swiftly. Many children do not live past …show more content…
Treatment involves managing the symptoms. Physical, occupational, and speech therapy could assist a child reach his or her developmental potential. A medication called anticonvulsants may help reduce the frequency and severity of seizures. Genetic testing may be performed to determine if a parent carries the mutated gene. When each parent is discovered to be a carrier of the Canavan gene mutation, there is a 25% chance with each pregnancy that the child will be affected with the disease. Although carriers do not have the disease, they can pass a copy of their mutated gene onto each of their