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Canavan disease is an autosomal recessive degenerative disorder that results in progressive damage to the brain and the nerve cells. This condition is one of the commonest degenerative cerebral diseases that occur during childhood. Canavan disease belongs to a set of inherited disorders, called leuko-dystrophies.
Although Canavan disease symptoms could develop in any racial group, it is commoner among the Ashkenazi Jews from Lithuania, eastern Poland, and Russia, and amongst the Saudi Arabians.
Canavan Disease Symptoms: An Overview
Clinical manifestations and symptoms of the disorder appear during early infancy, and tend to advance and aggravate speedily.
The symptoms of the disease generally emerge when the child is about three to six months old. Important initial signs are: developmental delay, noteworthy motor lateness, magnification of the head, poor head control, inadequate muscle control, and a lot of problems of feeding.
With a progression of the disorder; convulsions, heart burn, and difficulty in swallowing develop. Also, the nerve that goes to the eye shrinks and blindness occurs. Nearly all children diagnosed with Canavan disease succumb to it within the 1st decade of life.
Canavan disease symptoms and clinical manifestations that are commonly seen are:
Mental retardation and mental impairment
Loss of formerly attained motor skills
Difficulties in feeding
The patient shows droopiness and limpness or rigidity and stiffness of the body.
An abnormally big and badly controlled head / megalocephaly
The patient may also show convulsions and seizures.
Blindness, loss of hearing and paralysis are also important Canavan disease symptoms.
Typically, the children are very quiet, listless, lethargic and indifferent.
Death invariably occurs before 4 years, if treatment is not given. A few children may survive up to their 20s if newer gene therapy treatments are administered which have demonstrated extended their life expectancy. In several cases, these therapies help to provisionally halt the progression of the disorder.
Diagnosing Canavan Disease Symptoms
It is possible to diagnose Canavan disease using simple pre-natal blood tests that screen for the enzyme that is absent or for gene mutations related to aspartoacylase. When both the parents carry the faulty gene, the child gets affected with Canavan disease. Theres a 1 in 4 risk with every conception, that the baby will get affected with the disease.
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