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Canavan disease which also carries the name of Canavan - Van Bogaert - Bertrand Disease is a disorder of the autosomal recessionary type , which results in an injury to the heart cells which are in thebrain . This disease is quite a common strain of cerebral disease found in infant . It belongs to the mathematical group of genetic disorders , which are termed as leukodystrophy . Leukodystrophies are distinguished by disintegration of the myelin present in the phospholipid layer whose function is to protect the axone of the neuron . The chromosome 17 of the human body dribble the cistron which is responsible for this disorder .
Pathophysiology of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
This disease is also said to be inherited . If both the mother and father are said to be carriers then there is roughly 20 % chance of the baby being affected with this disease , because of which genetical counseling is advised for couples who are potential carrier of this defective gene .
Canavan disease is the issue of a shortcoming in the ASPA cistron whose role is to give rise enzyme called aspartoacylase . If the production of aspartoacylase is reduced , it handicap the sectionalisation or breakup of N - acetyl aspartate , which then starts to collect and starts interfering with the development of myeline cocktail dress in the wit and thus there is a defect in the transmission of the nerve impulses to the brain .
Signs and Symptoms of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
The symptom of this disease start during babyhood and is said to build very quickly . The main symptom are mental retardation , statistical regression of motor skills , problems with feeding , and spoil head control etc . seizure , paralysis , or blindness may also present themselves in some cases .
Treatment of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
As of now , there is no known intervention for this disease . discussion is generally mitigatory and supportive . investigator are working on a treatment which is in the experimental stagecoach with lithium citrate . This handling form in an animal model but when essay on a patient the patient went back to the original state after break off lithium citrate but it may be used in children affect with Canavan disease as a supportive measure . factor therapy is also being worked upon where a gene which is sound is made to take over the diseased one and it has shown to improve the quality of life in children affected with this disease .
Prognosis of Canavan Disease or Canavan-Van Bogaert-Bertrand Disease
Death with this disease broadly speaking pass before the small fry is of historic period 5 , but there have been some cases of children with mild physique of disease surviving till their teenager .
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