Canavan disease is a rare genetic disorder that affects your brain. It’s a neurodegenerative condition, meaning your brain abnormality worsens over time. Lack of an important brain chemical makes your brain become spongy, and it doesn’t function correctly.
Canavan disease is part of a group of diseases called leukodystrophies. They’re rare, genetic, disorders that affect your brain, spinal cord and nerves, and symptoms worsen over time.
What are the symptoms of Canavan disease?
Signs of infantile Canavan disease usually begin appearing at 3 to 6 months of age. They include:
Abnormal muscle tone, such as weak or stiff muscles.
Abnormally large head (macrocephaly) that’s hard to control.
Lack of motor skills to control muscle movement, sometimes described as “floppiness.”
Quiet or unresponsive behavior, showing little interest or emotion.
Most children get worse quickly and develop life-threatening problems by 10 years old.
Hearing loss.
Intellectual disability.
Muscle spasms.
Trouble swallowing.
Vision loss.
People with the juvenile form of Canavan disease may experience only mild developmental delays. They might have problems speaking or keeping up at school. But the symptoms aren’t as severe.
How is Canavan disease treated?
There isn’t a cure for Canavan disease. Treatment aims to manage symptoms and keep the person comfortable as long as possible. Options may include:
Feeding tubes to deliver nutrition and fluids.
Medications to control seizures (anticonvulsants).
Physical therapy to improve posture and communication.
Genetic testing and genetic counseling can help the entire family understand the risk of Canavan disease in future children.
How is Canavan disease diagnosed?
If your healthcare provider suspects Canavan disease, you may have several tests to diagnose it:
Blood or urine tests that test for levels of NAA or ASPA or tests that look for the genetic mutation.
Lab tests of specific skin cells (called cultured fibroblasts) to look for a lack of ASPA.
Canavan disease may be diagnosed before your baby is born. Amniocentesis is a test that uses a sample of the fluid that surrounds your fetus to measure levels of NAA. It’s usually performed when a birthing parent is 15 to 20 weeks pregnant.
Another test is available for parents with a high risk of Canavan disease or a known genetic mutation. Chorionic villus sampling (CVS) uses a tissue sample from your placenta to test for the genetic mutation. It’s performed when a birthing parent is 10 to 12 weeks pregnant.
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