Canavan disease is a cerebral disorder affecting the infants and effects the utilization of aspartic acid. It is also named as spongy degeneration of the brain or Canavan-Van Bogaert-Bertrand disease. Myrtelle Canavan first mentioned about the disease in 1931. People belonging to Eastern European ancestry are at increased risk of the Canavan disease. The disease which is characterized by lack of enzyme Aspartocyclase interferes with the utilization of the aspartic acid. This in turn is found to affect the formation of myelin sheath around the nerve fibers in the brain. Lack of myelin sheath interferes with the transmission of nerve impulses across the nerves resulting in mental retardation.
Here is an overview of the causes, symptoms, diagnosis and treatment options available for this dreadful disease.
Causes of Canavan Disease
Hereditary reasons are strongly associated with this disease.
Few causes for Canavan disease include
The disease is found to be inherited mainly from parents with a family history of the disease for several generations. The culprit gene found to be located in the chromosome 17 is found to be responsible for the disease. The infant is at increased risk of the disease if both the parents are carriers of the genetic defect.
Deficiency of the enzyme Aspartoacyclase also causes this disease. Due to lack of this enzyme N-acetylaspartic acid gets accumulated in the brain. This acid in turn causes destruction of the white matter of the brain.
Symptoms of Canavan Disease
Due to progressive worsening of the nerves in the brain the child does not show desired development. Infants affected with the disease start to exhibit the symptoms of the disease early during the first year of life.
Commonly observed symptoms of Canavan disease include
Difficulty to swallow.
Very less control in the head and neck regions.
Poor mental development.
Large head due to enlargement known as macrocephaly.
Regurgitation of the ingested food in to the nose.
Inability to walk.
Due to difficulty in swallowing feeding also becomes problematic.
Paralysis due to poor transmission of nerve impulses.
Poor development and even loss of existing motor skills.
Canavan Disease of Diagnosis
DNA testing is carried out in infants suspected to have the disease.
Prenatal blood tests to identify the genetic mutations regulating the enzyme aspartocyclase.
MRI and CT scanning of the head.
Urine and blood chemistry.
Canavan Disease Treatment
Unfortunately there is no treatment for this disease. The only cure that aims at regulating the symptoms of the disease is insertion of neuronal cells in to the brain so as to regulate the secretion of the enzyme aspartocyclase.
Even though gene therapy aims at regulating the symptoms, majority of the kids die before four years of age. In case of surviving kids they can only make it up to 18 or 20 years. In case of surviving kids psychomotor training and occupational therapies are found to be helpful in treating the disease.
Lastly, the only way to prevent the birth of infants with this dreadful disease is by DNA testing of the couples with family history of the disease and giving them genetic counseling.