More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: van Bogaert-Bertrand Disease
Canavan disease is a rare genetic disorder that affects the central nervous system. It is characterised by the absence of a crucial enzyme called aspartoacylase (ASPA), leading to the buildup of a toxic substance called N-acetylaspartic acid (NAA) in the brain. This accumulation results in progressive and severe degeneration of white matter, leading to impaired motor function, intellectual disabilities, and often a shortened life expectancy. Treatment options vary based on the form and stage of the disease and management focuses on addressing symptoms and supporting the patient’s well-being.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the ASPA gene cause Canavan Disease. This gene is used to make an enzyme which breaks down a compound called NAA in the brain. Without the ability to break it down, levels of NAA rise in those with Canavan Disease, creating a chemical imbalance leading to the symptoms described, although the role of NAA and how this causes these symptoms are not well understood. In the milder form of Canavan Disease, the enzyme’s activity is not so impaired, so NAA does not accumulate to such high levels.
Canavan Disease is most common in people with Ashkenazi Jewish ancestry.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
The most common form of Canavan disease is the severe infantile form but affected people usually appear normal at birth. Development problems become noticeable at around 3-5 months, as infants do not develop motor skills such as the ability to turn over, sit without support or control head movements. They may also have symptoms such as hypotonia (reduced muscle tone) and a large head (macrocephaly). Infants with Canavan disease may have difficulties in feeding and swallowing, poor vision, disturbed sleep, irritability and seizures. Most with the severe form of Canavan disease do not survive into adolescence.
Mild/juvenile Canavan disease causes mild developmental delay, including delay to speech and motor skills starting in childhood. These may be so mild that they are never identified as Canavan disease, and may not have an effect on life expectancy.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member are diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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