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Canavan Disease

Canavan Disease

A gene-linked neurological illness called Canavan disease causes the brain to deteriorate into spongy tissue packed with tiny fluid-filled gaps. As one of the leukodystrophies, a class of hereditary diseases, Canavan disease has already been identified. According to recent studies, the brain's oligodendrocytes, which are in charge of producing myelin sheaths, are unable to successfully carry out this important developmental activity. 


The fatty layer known as the myelin sheath serves as an insulator and a source of sustenance for the nerve cells in the brain's nerve fibers. Many oligodendrocytes fail to develop and die in Canavan disease, leaving axons, the projections of nerve cells, open to damage and dysfunction.


The gene encoding the aspartoacylase enzyme, which operates to degrade the concentrated brain chemical referred to as N-acetyl-aspartate, is mutated in Canavan disease.




The disease's symptoms can take many different forms. Not all afflicted children may have the same symptoms.


Among the most typical signs are:


  • Abnormally big head circumference
  • poor neck and head control
  • Diminished ability to monitor aberrant muscle tone
  • Impaired visual response
  • Stiffness or floppiness
  • Odd posture with arms extended and legs frequently held straight
  • Difficulties chewing food
  • Seizures

Usually, a sudden rise in head circumference occurs. Other symptoms take longer to manifest. For instance, if a baby's growth slows, visual issues may become more apparent.


As a progressive disease, Canavan disease's signs and symptoms may get worse with time.


Alarming factors:


Because Canavan illness is hereditary, it is passed from parents to offspring. The condition is brought on by a mutation in an enzyme-producing gene called aspartoacylase (ASPA). The function of ASPA is to degrade the neurotransmitter N-acetyl-aspartate (NAA).


ASPA is insufficient in those with Canavan disease, causing NAA to accumulate in the brain tissue. Their myelin (white matter), a fatty material that safeguards and nourishes the nerves in their brain and spine, is harmed as a result. As a result, their brain gradually degenerates into spongy tissue with numerous microscopic fluid-filled gaps. Additionally, it hinders the efficient transmission and reception of nerve impulses by the brain.


Leukodystrophies are a group of hereditary diseases that include Canavan disease. The myelin sheath, a thin covering that surrounds nerves, is impacted by certain diseases. Additionally, myelin aids in the transmission of impulses between nerves.


Children who have this illness don't have aspartoacylase, a crucial enzyme (ASPA). This organic compound aids in the breakdown of N-acetylaspartic acid into the constituents of myelin. Because myelin cannot adequately develop without ASPA, the brain and the remainder of the central nervous system experience decreased nerve activity.


To acquire Canavan disease, both parents must have the faulty gene that results in an absence of ASPA. Each kid will have a 25% risk of getting this genetic condition if both parents carry the gene.




You could undergo a number of tests to confirm the diagnosis if your doctor believes you have Canavan disease:


  • Assays that check the genetic mutation or the amounts of NAA or ASPA in the blood or urine
  • Studies in the lab using certain skin cells (known as cultivated fibroblasts) to check for ASPA deficiency


Canavan illness may be identified before the birth of your child. During amniocentesis, the amount of NAA is assessed using a specimen of the fluid around your foetus. It is often carried out between 15 and 20 weeks of pregnancy for the birthing parent.



Brain shrinkage from Canavan disease progresses over time. There is no treatment protocol or cure for this condition. Supportive and symptomatic care is provided. Canavan disease has a bad outlook. Death often happens before the age of 10, while some kids could live into their teens or even their 20s.




A rare hereditary condition called Canavan disease can cause the white matter of the brain to degrade. Consult your doctor about the type of care your child will require and if DNA testing is appropriate for other members of your family. Despite the fact that the illness is frequently severe and fatal, researchers are exploring potential remedies.

Medanta Medical Team
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