Canavan Disease: Symptoms & Signs

Medically Reviewed on 10/20/2020

Canavan disease is a progressive inherited disorder of the central nervous system.

Signs and symptoms appear in children between 3-6 months of age. These can include

  • developmental delay,
  • significant motor slowness,
  • feeding difficulties,
  • enlargement of the head (macrocephaly),
  • loss of muscle tone (hypotonia), and
  • poor head control.

As the disease worsens, shrinkage of the nerve to the eye (optic atrophy), seizures, and blindness may occur. Other associated symptoms can include the inability to swallow and heartburn.

Cause of Canavan disease

A deficiency of the enzyme aspartoacylase causes Canavan disease. People inherit the disease as an autosomal recessive condition, with both parents silently carrying a single Canavan gene and an affected person receiving a defective gene copy from each parent.

Other canavan disease symptoms and signs

  • Blindness
  • Developmental Delay
  • Enlargement of the Head (Macrocephaly)
  • Feeding Difficulties
  • Heartburn
  • Inability to Swallow
  • Loss of Muscle Tone (Hypotonia)
  • Poor Head Control
  • Seizures
  • Shrinkage of the Nerve to the Eye (Optic Atrophy)
  • Significant Motor Slowness

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Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.