Also known as Aspartoacylase deficiency, ACY2 deficiency, ASPA deficiency, Canavan is a very common disease associated with degeneration in infancy. It was studied by a gentleman known as Myrtelle Canavan. According to the studies this condition is seen to be a neurological genetic disorder. It is usually inherited by the infants directly from their parents and who have the mutated genes. It is therefore linked to gene mutation as a result of missing enzyme known as the aspartoacylase enzyme. The specific gene causing this condition is usually located at the chromosome 17. Basically, this disease involves degeneration of the part of the brain known as the white matter. It degenerates into the spongy tissue hence causing improper development of the covering that protects the brain known as the myelin sheath.
How to Know your Child is Suffering from Canavan Disease
For the fact that Canavan affects infants and progresses even up to early childhood, it would be very beneficial you are able to detect it early enough. It is fatal and can be life threatening if left untreated. Below are some of the major symptoms that you should be on the lookout in your children to ensure they are not suffering from Canavan disease. A major symptom that presents with Canavan is the atonia of the neck muscles. Be checking your child’s neck on regular basis and if you note some abnormal muscle development, then there is a call for alarm. You can also identify this symptom by checking how they turn their head. If the child is having difficulty doing so, as in the neck is stiff, consider consulting your physician for evaluation. Did you know that eyesight related conditions may be a symptom for Canavan disease? That is very true, if you note your child is having poor eyesight or is complaining of pain in the eyes, don’t just assume it, it could be a symptom of Canavan disease. Take a step and visit an eye specialist to check what disease your child is suffering from. Remember that if you do not take any action your child might end up completely blind.
Some More Information
If your child is not grasping things or is not conscious of the surrounding then they may have mental retardation, a symptom of Canavan disease. You can also consult a physician for evaluation of the disease. Taking genetic tests yourself alongside your mate, either husband or wife can be a good start to know whether your child is suffering from Canavan disease. If both of you are carriers of gene mutation, there would be a big probability that your child is suffering from Canavan disease. Other ways to detect Canavan disease in your child is checking for flexion of their arms, Hyperextension of the legs, Hypotonia, difficulty in feeding, difficulty in movement, Megalocephaly (a problem of big head-the child is not able to move or balance it easily), hearing problems or even loss and in other cases paralysis.
It would be a wise idea if you took time to consider the above tips on how you can identify Canavan disease in your child and be able to treat it early enough.