What Is A Canavan Disease?

March 02 23:14 2019 Print This Article

It is defined as a disorder in which there is a degenerative disorder which affects the nerve cells which are present in the brain. It is also known as Canavan Van Bogaert Bertand disease. The other name is amino acylase 2 deficiency. It belongs to the group of leukodystrophies disorder. The myelin breaks down and there is a breakage of the phospholipids layer which covers the axon as well as neuron. The gene which is present with this disorder is linked to chromosome number 17. This disease was first described by M Canavan.

What are the signs and symptoms of Canavan disease?

It includes the early infancy which spreads fast. It leads to mental retardation as well as loss of motor skills. There is a problem in the feeding as well as in the tone of muscle. The head control is poor and sometimes the head increases in size. One can also note blindness, seizures as well as paralysis.

How Canavan disease can be treated?

The treatment is mainly symptomatic as well as supportive. One can also use the lithium citrate. The person with this disorder has a high level of n acetyl aspartate. It is in inverse relationship with the levels of lithium citrate. The levels of n acetyl aspartate decreases in the brain and can be tested by the magnetic resonance imaging. The supportive therapy is mainly provided by the lithium and it decreases the concentration of n acetyl aspartate. One can also go for few experimental trials. One can clone the healthy gene so that the defective gene can not lead to this disorder.

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