This fact sheet provides information about Canavan disease, its frequency, and signs and symptoms.

 

Canavan disease

Leukodystrophies are a group of disorders that involve the destruction of myelin. Myelin is a fatty covering that is used by the body to insulate nerve fibres and helps to promote rapid transmission of nerve impulses through the nervous system. If there is a problem with the myelin, as is the case in leukodystrophies, nerve impulses can be disrupted, leading to an impairment of the nervous system.

Diagnosis

Diagnosis will depend on the type of leukodystrophy, and often will need a number of specialists to be involved, including neurologists, and geneticists. The diagnostic methods vary between types, some of these include:

* Physical examination

* Blood testing

* Urine testing

* Genetic testing

* MRI

* Nerve conduction testing

Signs and Symptoms

* Vary by disease (see below)

Treatment

No specific therapy is currently available to treat these disorders. Management is generally supportive and includes a multitude of medical participants including physicians, occupational therapists, physiotherapists and many more.

 

A type specific to section 24 of the NDIS Act

 

Canavan disease

Canavan disease is a progressive neurological disorder that becomes apparent during infancy. The disease is caused by a problem with the ASPA gene, which provides instructions for the production of an enzyme called aspartoacylase. Under normal circumstances, this enzyme breaks down a substance called N-acetyl-L-aspartic acid, which is found predominately in neurons in the brain. Ultimately, mutations in this gene damages the ability of the neurons in the brain to send and receive messages. Children generally will show signs in the first three to nine months of life, and do not live past the age of 10.

 

Frequency

Canavan disease is most common in people of Ashkenazi Jewish heritage, with an estimated incidence of approximately 1 in 6, 400- 13, 500 people. Incidence in other populations is unknown.

Signs and Symptoms

* Rapidly increasing head circumference

* Lack of head control

* Reduction in visual responsiveness

* Developmental delay- delay in turning over, delay in sitting unassisted

* Weak muscles (hypotonia)

* Seizures

* Feeding and swallowing difficulty

References:

Canavan Disease (2019). Retrieved from https://ghr.nlm.nih.gov/condition/canavan-disease#

Canavan Disease (2019). Retrieved from https://rarediseases.info.nih.gov/diseases/5984/canavan-disease

Canavan Disease (2019). Retrieved from https://rarediseases.org/rare-diseases/canavan-disease/