What Is Canavan Disease?
It was first spotted and described by Myrtelle Canavan and that’s why it’s called by that name. First discovered in 1931, there’s been a lot of research done on this disease since then, especially about its biochemical and genetic qualities. It is only through this extensive research that it has become possible today to identify and diagnose this condition.
It is also called Canavan-Van Bogaert-Bertrand disease or aspartoacylase deficiency and belongs to a group of genetic disorders that is called leukodystrophies. Unfortunately, this disease is an inherited disease and to date, there has been no categorical cure that has been discovered. How is this condition manifested? It is a degenerative disease that damages the cells in the brain, specifically the nerve cells. What happens is that the sheath of myelin that occurs in the phospholipids layer which insulates the neuron is what degenerates and this happens because of a particular gene present in the patient. The gene mutates – and this is because of an inherited tendency – and this leads to the damaging of myelin.
This neurological disease makes the white matter in the brain become a spongy mass because of the disturbed development of the myelin sheath. It is because of myelin that the brain has its whitish color and it has around ten constituents which play a very vital role in brain development. The degeneration might affect just one of these chemicals but that is all it takes to destroy the brain functions.
The onset of this disease is noticed when a child is very young – often as an infant. Sometimes a perfectly normal child can suddenly develop the disease. In most cases however, one can observe its symptoms when the child is around 4 months old when there seems to be an inordinate delay in the usually motor skills milestones. The children tend to be in a constant state of apathy. The heads become larger than proportionate and they find difficulty in turning over. There is also a tendency to retardation and there could be problems with sleeping, with eating and with moving around. This very quickly degenerates to muscle atrophy and then blindness and paralysis.
The disease is known by a number of names. Among them are: asp or aspa deficiency (that is the name of the gene), aspartoacylase deficiency, aminoacylase 2 deficiency, leukodystrophy, spongiform, Von Bogaert-Bertrand disease or spongy degeneration of the brain.
Like certain other diseases, this too is inherited and is found mainly among just one set of people – the Ashkenazi Jews. Thanks to the disease having been discovered, it enables people of this group to take precautions and to be tested for this before they decide on having a child. The disease usually follows if both the parents happen to be carriers – in which case they will probably be advised against a pregnancy as the chances of the child getting it are very high.
Canavan disease is a terrible disease for a small child to suffer from so it is all the more important that would-be parents are educated about the symptoms and the causes and get themselves tested so as not to make suffering and death a part of a baby’s existence.