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Canavan Disease

Canavan disease is a progressive neurological disorder. Carriers of this condition have no symptoms themselves but are at risk of having a child with Canavan disease. Your risk of being carrier  depends on your family history and ethnicity.

Symptoms

• Severely low muscle tone
• Developmental delay
• Life expectancy usually 4 years or less

Causes/Risk Factors

• Family history of Canavan disease
• ASPA gene mutations
• Ashkenazi Jewish ethnicity

Genetic Test/Carrier Screen

The following genetic tests may be appropriate based on your personal and/or family history.

• Carrier Testing
  
  • Blood draw for ASPA genetic testing
• Prenatal Testing
  
  • Chorionic Villus Sampling (CVS)
  • Amniocentesis

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

Canavan Foundation

Chicago Center for Jewish Genetic Disorders

National Library of Medicine Genetics Home Reference