Canavan Disease

What is Canavan Disease?

Canavan disease is an inherited disorder that destroys the myelin sheath, the white matter that insulates nerve cells in the brain. It causes overall muscle weakness and developmental delay, leading to severe mental disability. Symptoms of Canavan disease usually begin with poor muscle tone (hypotonia) in children 3 to 5 months old. This causes problems turning over, controlling head movements, and sitting up. The infant’s head also becomes rapidly larger. Over time, people with the condition become unable to swallow and develop sleep disturbances, seizures, and blindness. Most people with Canavan disease die in childhood, although some have lived into their teens and early twenties.

Canavan disease is caused by a deficiency in an enzyme called aspartoacylase. This enzyme breaks down a material called N-acetyl-L-aspartic acid (NAA) in the brain. Without enough enzyme, the NAA builds up in the brain and destroys its white matter.

How Common is Canavan Disease?

The prevalence of Canavan disease in the general population is unknown. Among people of Ashkenazi Jewish descent, the disease affects approximately 1 in 6,400 to 13,500 people, making 1 in every 40 to 58 Ashkenazi Jews a carrier.

How is Canavan Disease Treated?

At this time, there is no cure for Canavan disease. Treatment focuses on keeping the affected person comfortable with proper nutrition and hydration and controlling seizures with medication.

What is the Prognosis if my Child Has Canavan Disease?

Most people with Canavan disease die in childhood, although some survive into their teens or early twenties. In childhood, they become severely mentally disabled and lose muscle control.

Canavan Disease Resources
  • Canavan Foundation
    A non-profit organization dedicated to increasing awareness of Canavan disease and encouraging prevention through genetic testing.
    450 West End Avenue #10C
    New York, NY 10024
    Phone: (212) 873-4640
    Secondary Phone: (877) 4-CANAVAN
    info@canavanfoundation.org
  • Canavan Research Foundation
    A foundation, started by parents of a child with Canavan disease, which advocates for and funds gene therapy for the disease.
    88 Route 37
    New Fairfield, CT 06812
    Phone: (203) 746-2436
    info@canavan.org
  • Genetics Home Reference
    Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government’s National Institutes of Health.
 Other Names for Canavan Disease
  • Canavan Disease
  • Canavan-Van Bogaert-Bertrand Disease
  • ACY2 Deficiency
  • Spongy Degeneration of Central Nervous System
  • Aminoacylase 2 Deficiency
  • Aspa Deficiency
  • Asp Deficiency
  • Aspartoacylase Deficiency
  • Spongiform Leukodystrophy
  • Van Bogaert-Bertrand Syndrome
  • Spongy Degeneration of White Matter in Infancy

 

You can take action now to assess your risk for Canavan disease and passing it to your children. To get started with a JScreen genetic test, click here.

Source: Counsyl.

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