Canavan disease is a life-shortening progressive disease of the central nervous system. Affected children mostly exhibit normal development in early infancy then experience progressive neurological deterioration of their physical and mental capabilities.
If you have just received a diagnosis there is help and support available – please see ‘Further information and support’ below for links to valuable resources. It is also important to note that not every person with this condition experiences all the symptoms described and it is worth talking to your doctor or other relevant healthcare specialists to discuss you or your family member’s individual case.
Canavan Disease is an autosomal recessive condition.
The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 50.
Onset of symptoms tends to occur in early infancy, between the ages of 3 and 9 months. Symptoms vary among individuals but often include:
- Abnormal muscle tone such as stiffness or floppiness
- Rapidly increasing head circumference
- Lack of visual responsiveness
- Lack of head control
- Regression of early developmental milestones
Hearing usually remains functional but deafness may result.
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This disorder is classified as a leukodystrophy, an inherited neurological disorder that affects the growth of the myelin sheath, the ‘white matter’ of the brain that serves as an insulator to protect nerves. Canavan disease is caused by a deficiency of the enzyme aspartoacylase (ASPA) which leads to a build up of N-acetylaspartic acid (NAA) in the brain. As the NAA accumulates it causes a chemical imbalance that destroys the myelin, making the ‘white matter’ spongy and resulting in disease developing.
Currently there is no cure, or effective treatments to slow or reverse disease progression. Treatments that are available include maximising nutrition and protection from infection. Currently gene therapy and stem cell therapy are being researched to look for potential benefits to Canavan disease patients.
Canavan disease is associated with having high childhood mortality, however, life expectancy is usually into the teens and sometimes beyond.
A diagnosis can be made using laboratory tests that generally look for a lack of the enzyme ASPA in skin cells or elevated levels of the chemical NAA in urine. A diagnosis can also be made using genetic testing, which looks for four common mutations, two of which are mainly found in the Ashkenazi Jewish population.
Both prenatal testing and carrier testing for the condition are now possible. Genetic carrier testing, which involves a simple blood test, can identify about 98% of Ashkenazi Jewish carriers and up to 60% of non- Jewish carriers.
For more details about testing, please refer to the testing section.
There is currently no UK patient group specifically for CD, however, there is a British branch of an international organisation dedicated to demyelinating diseases including CD.
The Foundation is dedicated to preventing CD through education, testing and facilitating research efforts. The site provides information about the disease, activities of the Foundation, and a directory of international testing centres.
The focus of the Research Foundation is to support research into finding a cure for CD. The site provides an overview of CD, information on current advances in research and a discussion forum for CD-related topics.
The NTSAD is dedicated to leading the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals. It provides educational materials, information on the latest research, and many other resources for those affected.
To find out more about general resources relevant to Jewish genetic disorders, please visit our resources and support section.
Written by: Jnetics
Approved by: Dr Ming Lim, Consultant Paediatric Neurologist, Evelina Children’s Hospital Children’s Neurosciences Centre, St. Thomas’ Hospital.
Last review: 07.06.2018