Canavan Disease

What is Canavan disease?

Canavan disease is a rare inherited disorder that damages the ability of nerve cells in the brain to send and receive messages. Canavan disease is a disease in a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Canavan disease is progressive, fatal, and begins in infancy. Unfortunately, many children do not live past age 10.

What are the symptoms of Canavan disease?

The following symptoms are characteristic of Canavan disease:

• Rapidly increasing head circumference
• Lack of head control
• Reduced visual responsiveness
• Abnormal muscle tone such as stiffness or floppiness
• Developmental delays, such as difficulty crawling, walking, sitting, or speaking
• Seizures
• Paralysis
• Blindness, deafness
• Trouble swallowing

What causes Canavan disease?

Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene; the lack of this essential enzyme causes deterioration of the white matter in the brain, thereby preventing the proper transmission of nerve signals. This mutation is inherited as an autosomal recessive trait.

How is Canavan disease diagnosed?

A diagnosis of Canavan disease may be suspected in infants with the characteristic findings of the disorder. A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests, including:

• Gas chromatography-mass spectrometry
• Blood tests
• Cerebrospinal fluid (CSF) examination
• Cultured fibroblasts examination
• Amniocentesis

What are the available treatments for Canavan disease?

Unfortunately, Canavan disease itself cannot be cured, but the symptoms of the disease can be treated. These symptomatic and supportive treatment options include physical therapy to help with posture and communication skills, feeding tubes to help with swallowing difficulties, and anti-seizure medications for seizures.

Where can I find out more about Canavan disease?

• National Organization of Rare Disorders (NORD)
• NIH
• Canavan Foundation