Which are the symptoms of Canavan disease?

Expert Answers
ask996 eNotes educator| Certified Educator

Canavan disease is one which usually has an onset in the early infancy period. The onset and progression is very rapid, and some symptoms might include unusual muscle tone for the age and stage of infancy often which manifests as loose and floppy or very stiff. This would include difficulty controlling the head which in itself might be unusually large. Mental retardation is also a possibility as is the loss of many neuro-muscular functions and motor skills previously developed this could include paralysis, blindness, and loss of hearing. Needless to say these children will become more quiet than previously, and they appear to lose interest things.

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giorgiana1976 | Student

Canavan disease is a genetic disease, an inborn neurological malformation in which the white matter of brain degenerates transforming the spongy tissue. There is no antidote or a standard course for medical treatment.

Symptoms of Canavan disease (occurring at an early age) include mental retardation and loss of motor skills. Death occurs at ages between 4 and 20 years. The disease can be treated with modern genetic therapy or stem cell therapy.

Canavan disease is one of the most common degenerative brain disease that appears at an early age. In the Ashkenazi Jewish ethnic group, about 2% of members are carriers of the hereditary disease.Of course, Canavan syndrome occurs also in other ethnic groups.

There are only two laboratories in the world that offers genetic testing for Canavan disease. These labs require their clients' blood samples to be transported very carefully, this fact requiring high costs.For this reason, DelphiTest GmbH Germany developed a new genetic test based on analysis of oral fluid samples. Customers can easily and without pain  take samples in their home. Samples are then sent to the laboratory in Regensburg, where the gene coding region will be analyzed.

Genetic counseling is very important in helping couples who present risks in exploring their family planning options.

mkcapen1 | Student

Canavan Disease is a cerebral degenerative disease.  It is a gene related disorder that occurs in birth.  The white material in the brain becomes spongy and fluid fills the gaps.  The disease affects the person’s myelin sheath, fibers that protect nerve endings, resulting in neurological breakdown.  Symptoms progress rapidly and include mental retardation, loss of or undeveloped motor skills, swallowing difficulties, and floppy lucid movement of the extremities and neck. It can also result in vision loss, paralysis, and hearing problems. 

The disease tends to be ethnic related targeting Ashkenazi Jews and Saudi Arabians.  The gene is only transferred when both parents are carriers.   It can be detected early through blood tests.  Prognosis for the outcome of the disease is very poor.  Children with this disease usually die before they reach 4 years of age.

Canavan Disease was diagnosed by Myrtelle Canavan in 1931.

The Canavan Foundation is an organization that has been developed to help provide information and research regarding the disease.

Other names for the disease include Van Bogaert-Bertrand disease, and

 aspartoacylase deficiency.