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Canavan leukodystrophy



Canavan leukodystrophy Definition


Canavan disease is an autosomal recessive disorder that is the most common cerebral degenerative disease of infancy. The disease causes progressive damage to the brain's nerve cells. It is also a gene-linked, neurological birth disorder, wherein the white matter of the brain disintegrate into spongy tissue puzzled with microscopic fluid-filled spaces. The disease belongs to a group of genetic disorders called leukodystrophies, which are characterized by the degeneration of myelin. Myelin is an electrically insulating dielectric covering the phospholipids layer of neuron insulating the axon. Canavan disease hinders the body's normal production of myelin. Called the central nervous system's “white matter,” this fatty membrane ensures that nerve impulses are properly transmitted.


Canavan leukodystrophy Diagnosis


The disease can be identified by a simple prenatal blood test. It screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. A child may only be affected if both parents must be carriers of the defective gene. When both parents carry the Canavan gene mutation, there is a 25% chance with each pregnancy that the child will have Canavan disease.


Canavan leukodystrophy Symptoms and Signs


Appearing in early infancy and progressing rapidly, symptoms of Canavan diseases may include mental retardation, feeding difficulties, abnormal muscle tone, loss of previously acquired motor skills, poor head control, and megalocephaly or an abnormally large head. Other symptoms such as paralysis, seizures, and blindness may also arise. Children with this disease are also characterized to be quiet and apathetic and may occur in any ethnic group. The disease is however more frequent among Ashkenazi Jews from Eastern Poland, Lithuania, western Russia and among Saudi Arabians. Studies show that 1/40 individuals of Eastern European (Ashkenazi) Jewish ancestry are carriers.


Canavan leukodystrophy Treatment


Since Canavan disease causes progressive brain atrophy, there is no identified cure or standard course of treatment. Treatment therefore is symptomatic and supportive. This is why death among children usually occurs before the age of four. Newer treatments however have helped some children survive into their teens and twenties. Current studies are ongoing since the gene for the disease has been located. The Myelin Project and The Stennis Foundation are among the recognized endeavors seeking more support for studies related to the disease. The Myelin Project was founded by the Augusto and the late Michaela Odone, whose son Lorenzo suffers from X-linked adrenoleukodystrophy. The couple's struggle was dramatized in the movie Lorenzo's Oil. Their son has survived the disease is now 29 years old.


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